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What type of genetic changes occurs when ovaries or uterus are removed from female body?


I saw so many women which have present dermoid cysts in their ovaries or uteruses. Doctors operate and mostly the ovaries and uterus can not be saved and the doctors remove the ovaries or uterus.

Which type of genetic changes occur in such type of women?


welcome to biology stackexchange!

In the classical way we think of the body, there won't be a lot of genetic changes if the ovaries, uterus (or the testes for that matter) are removed from the body.

The main effect would be that the sex hormones that are produced in these organs would no longer be present and this would have a profound effect. So the broad answer might be 'no genetic effects but large endocrine changes'. Endocrinology is the study of glands and their function in the body. Growing cysts, tumors as well as other effects seem like reasonable effects to see for such a drastic change in the body as removing the reproductive organs.

If I were hard pressed though probably this might end up with some small genetic effects compared to an individual who had never had the organs removed. Mutations happen frequently in many of our tissues and also they respond to the environment to methylate the genome and modify it in non-genetic ways ( known as epigenetic effects). This is purely conjecture but its also found that nearly everything has some effect on the cells.

hope this helps.


Answer simplified to match OP level

There are two different parts of biology in this question:

  1. Genetic changes, only happen when the DNA changes (in a person's genes). But in general, this is fixed before your birth (when you are conceived), and what happens in your life does not change it any more.
    More accurately, genetics can change, or be changed, but not just by removal of a body part like this question asks.

  2. Removal of organs like the ovaries and uterus will mean that hormones they produce, and actions they are involved in, may be reduced or stop. That can change a persons life a lot, because hormones and other functions play a major role in our body. But it doesn't change the person's genes, or genetic makeup.

A way to think about this is, if a doctor had to remove your leg, or your tonsils, and then you had a child, your child would have the leg, or tonsils, even if you didn't. Because that is in your genes, and has not been changed.


Hysterectomy: Long-Term Care

A hysterectomy is a common and generally safe surgery that entails removing a woman's uterus. The surgery has many potential benefits (e.g., relief of symptoms like pain or bleeding).

You may experience various long-term changes after hysterectomy as well. These can include symptoms of menopause (if your ovaries were also removed) and changes in mood or sex drive. Rare complications that may necessitate future surgeries can also occur.


The Pathologist's Role

Pathologists have an important role in medicine, and nowhere is this more evident than in the care of ovarian cancer patients.

Pathologists are crucial to accurate diagnosis and therefore appropriate treatment of ovarian tumors. The pathologist will examine a small sample (a biopsy) of your ovarian tissue under a microscope. The pathologist identifies whether the tumor is benign or malignant and the type of tumor. This is essential because tumors of different types behave very differently and require different treatment regimens.

The ovary offers a particular challenge to pathologists because so many different types of tumors are derived from this organ. Furthermore, the pathologist often examines biopsies of the lymph nodes.

Historically defined as disease recurrence within 6 months of completion of first-line platinum-based chemotherapy, although this is now more broadly applied to also include patients progressing within 6 months after multiple lines of chemotherapy.

(of cells or tissues) Obtained from the same individual.

The degree to which a substance (a toxin or poison) can harm humans.

This chemotherapy technique delivers chemotherapy drugs directly into the abdominal cavity through a catheter (thin tube).

A surgical procedure that removes your uterus through an incision in your lower abdoman.

Also known as a BSO, is a surgical procedure in which both of the ovaries and the fallopian tubes are removed.

A surgical procedure designed to remove the omentum, which is a thin fold of abdominal tissue that encases the stomach, large intestine and other abdominal organs.

Removal of the affected ovary and fallopian tube.

A primary ovarian tumor with features similar to those of the kidney tumor of the same name.

Also called sonography or diagnostic medical sonography, is an imaging method that uses high-frequency sound waves to produce images of structures within your body. The images can provide valuable information for diagnosing and treating a variety of diseases and conditions.

A multidisciplinary meeting of the physicians and caretakers involved in cancer care, including pathologists, surgical oncologists, medical oncologists, radiologists, nurses and genetic counselors to discuss the treatment plans for individual patients.

A mass or a lump. A tumor mass can be nonneoplastic and be due to something like swelling or inflammation. A tumor mass can also be neoplastic, and includes both benign and malignant tumors.

The process by which the body reads the code in RNA to make proteins.

An inflammatory mass found in the fallopian tube, ovary and adjacent pelvic organs.

Thecomas are stromal tumors containing a significant number of cells with appreciable cytoplasm resembling to varying degrees theca cells.

The process by which DNA is copied to make RNA.

A type of treatment that specifically targets a single molecule or pathway involved in cancer cell growth and progression.

A mature teratoma composed either exclusively or predominantly of thyroid tissue.

Any change noted by a patient that could be caused by a disease.

A disease that widely affects the entire body.

A treatment that can reach cancer cells that have potentially spread throughout the body. Examples include chemotherapy, hormone therapy, and targeted therapy. Systemic therapies can have side effects due to effects on normal body cells, such as hair loss or gastrointestinal distress.

A tumor composed entirely of cells resembling steroid-secreting cells that lack Reinke crystals.

A non-neoplastic, benign proliferation of ovarian stromal cells without associated luteinized stromal cells.

Presence of luteinized cells in the ovarian stroma, typically associated with stromal hyperplasia.

A gene mutation that occurs spontaneously in the body tissues or in the cancer cells that cannot be passed on to offspring (i.e., it cannot be inherited).

A measure of how much a cancer has grown and/or spread in the body (i.e., how advanced a cancer is). The most common staging system is the TNM system, which stands for Tumor, lymph Nodes, and Metastasis. FIGO stage is based on the International Federation of Gynecology and Obstetrics system.

The term for the usual treatment given for a particular disease, which is based on past research and experience proving the treatment’s efficacy and safety.

An uncommon, sex cord-stromal tumor with a distinctive pattern of simple and complex annular tubules.

A benign, stromal tumor containing cells with signet-ring morphology but without intracytoplasmic mucin, glycogen or lipid, in a background fibromatous stroma.

An undifferentiated neoplasm, predominantly composed of small cells, but occasionally with a large cell component, and which is often associated with paraneoplastic hypercalcemia. The tumor is unrelated to small cell carcinoma of neuroendocrine (pulmonary) type.

These tumors are characterized by epithelial cell types resembling those of the fallopian tube, including ciliated cells. The epithelial component may be associated with a prominent component of stromal cells (cystadenofibroma, adenofibroma), may lack a stromal component (cystadenoma) or be entirely a surface papillary lesion (surface papilloma). Combinations of these growth patterns occur.

A neoplasm composed of Sertoli cells arranged in a variety of patterns, but most commonly as hollow or solid tubules.

Tumors are composed of variable proportions of Sertoli cells, Leydig cells and in the case of moderately and poorly differentiated neoplasms, primitive gonadal stroma and sometimes heterologous elements.

The process of having a second set of doctors look at your unique medical situation to provide a second opinion on the diagnosis and/or treatment plan.

A benign cystic neoplasm with two or more Müllerian cell types, all accounting for at least 10% of the epithelium. Rare tumors have more prominent fibrous stroma (adenofibroma).

A carcinoma composed predominantly of serous and endocervical-type mucinous epithelium. Foci containing clear cells and areas of endometrioid and squamous differentiation are not uncommon.

mRNA molecules are a copy of the genetic information encoded in DNA, and the RNA copy is then used to create proteins.

A cancer that arises from the connective tissue of the body. Examples include angiosarcoma (arising from blood vessels) and leiomyosarcoma (arising from smooth muscle cells).

A benign, stromal tumor composed of admixed rounded and spindled cells, arranged in cellular nodules in a hypocellular, edematous or collagenous background stroma.

A term used to describe testing used to look for a disease before it has caused symptoms.

A research study in which patient records and files are reviewed to look for results (outcomes) that already occurred in the past.

The chance or probability of developing a disease in a given period of time.

Anything that increases the risk of developing a disease. For ovarian cancer, these include family history and age.

Resident physicians are physicians who have finished medical school and are now studying a specific area in depth, such as pathology, internal medicine, surgery, pediatrics, radiology, and more.

A type of research study in which patients are randomly assigned into treatment groups, either to receive an experimental treatment (“intervention group”) or standard treatment (“control group”).

When a cancer returns after previously having been eliminated. This can be a local recurrence in the area where the cancer was first detected, or a distant recurrence when the cancer metastases to a new organ.

A treatment for some forms of cancer that uses high energy radiation to damage the DNA of the cells. This is a form of local therapy

A physician who specializes in using targeted radiation therapy to kill tumor cells in a specific area.

Round microscopic calcific collections.

A term used describe treatments that are done before a disease occurs to prevent the disease from happening.

A research study that is conducted using new patients and following their course to observe the outcome.

A term used to describe continued growth of a cancer.

A measure of how rapidly a tumor is growing by assessing how many cells are dividing. The measure ranges from 0% (no cells dividing) to 100% (all cells dividing). (See also Ki67.)

A term used to describe the expected outcome of a cancer or disease (i.e., favorable or unfavorable).

A test result that can be used to help predict a patient’s prognosis. For instance, the expression of the estrogen receptor (ER) and progesterone receptor (PR) are favorable prognostic features.

The protein responsible for binding to and detecting progesterone in the body the receptor is located in the nucleus of many cell types. Some cancers express the progesterone receptor and are termed “hormone receptor positive” cancers.

A sex hormone made by the body that is part of the estrogen signaling pathway.

One or more hyperplastic nodules of large, luteinized cells developing during the latter half of pregnancy and involuting spontaneously during the puerperium.

A term that describes variation in size and shape of a cell’s nucleus.

A hormonal disorder causing enlarged ovaries with small cysts on the outer edges. The cause of polycystic ovary syndrome isn't well understood, but may involve a combination of genetic and environmental factors. Symptoms include menstrual irregularity, excess hair growth, acne, and obesity.

A type of imaging study that uses a radioactive element attached to a sugar molecule to detect parts of the body with rapidly growing cells (which consume more sugar), such as cancer cells.

Near and around the time of menopause.

A method of processing tissue to evaluate it under the microscope the tissue is formalin fixed and paraffin embedded so that it can be thinly sliced and made into slides to review under a microscope.

A physician who specializes in the diagnosis of disease pathologists use a microscope to examine the cells from tissue to determine if the tissue is normal or cancer.

A description for how a cancer has responded to therapy, as seen under the microscope.

A surgical procedure where the ovary is removed.

Ovarian torsion is a condition that occurs when an ovary twists around the ligaments that hold it in place. Ovarian torsion can cause severe pain and other symptoms because the ovary is not receiving enough blood.

Treatments given to relieve pain and symptoms rather than to cure the disease.

The part of a cell that contains the cell’s genetic material, DNA.

The size ratio of the nucleus to the cytoplasm. In many cancers, the nuclear becomes markedly and abnormally enlarged, leading to the abnormal feature of a “high N:C ratio.”

A histologic measure of how closely a cancer cell nucleus resembles that of a normal cell, or a measure of how abnormal a cancer nuclear is. It is generally graded as 1 (resembles normal), 2 (moderately abnormal), and 3 (markedly abnormal).

Relating to the nucleus of a cell.

Peritoneal lesions associated with serous borderline tumor were originally classified as “non-invasive” or “invasive" implants based on whether the lesions were confined to the surface of organs (noninvasive) or infiltrated the underlying tissue (invasive). Implants that display hierarchically branching papillae or detached clusters of cells associated with non-fibrotic stroma that do not invade have been termed “epithelial-type non-invasive implants,” whereas, those composed of clusters of cells embedded in reactive-appearing or dense fibrous tissue that overshadow the epithelial component and appear “tacked on” to the peritoneal surface, have been termed “desmoplastic-type non-invasive implants.” Single cells with eosinophilic cytoplasm may be present in the stroma in the latter type but are not indicative of invasion.

A non-invasive tumor displaying a nonhierarchical branching architecture featuring micropapillary and/or cribriform patterns composed of rounded cells with scant cytoplasm and moderate nuclear atypia.

Therapy that is given to the patient before surgery to attempt to shrink the tumor size. Neoadjuvant therapy is typically chemotherapy or targeted therapy, but can also include hormonal therapy or radiation therapy.

An abnormal growth of cells that are clonal, that is, they arose from each other and share genetic material. Neoplasms can be benign or malignant.

A change in a cell’s DNA. Some mutations lead to a favorable change in a gene or a protein’s function, an unfavorable change, a loss of function, or no change at all (see also genetic mutation).

An approach to patient care that incorporates several disciplines of medicine and allows for communication between physicians and caretakers of different specialties. In ovarian cancer care, this includes genetic counselors, medical oncologists, nurse navigators, pathologists, radiation oncologists, radiologists, and surgical oncologists. By sitting everyone down at one time, medical providers can better coordinate care, leading to better patient care.

A malignant epithelial tumor composed of gastrointestinal-type cells containing intra-cytoplasmic mucin.

An imaging technique that uses a powerful magnetic field and radio waves to take pictures of tissue deep in the body.

A benign, cystic tumor lined by mucinous gastrointestinal-type epithelium or rarely, having prominent fibrous stroma (adenofibroma).

A tumor with two or more types of malignant, primitive, germ cell components. The most common admixture is that of dysgerminoma and yolk sac tumor.

A count of number of dividing cells in a sample. Mitotic counts are generally measured by number of mitotic cells per 10 high power fields (HPF). The more mitotic cells present, the faster the cells are growing.

A device used by pathologists to examine tissue on slides the microscope magnifies the tissue so that pathologist can examine the individual cells and make a diagnosis.

The process by which a cell divides into two cells. Under the microscope, dividing cells can be identified by their exposed chromosomes.

For serous borderline tumor, the term has been applied to clusters of cells in the stroma with abundant eosinophilic cytoplasm, similar to the eosinophilic cells on the surface of papillae, that measure < 5 mm in greatest dimension. These cells are less likely to express estrogen and progesterone receptors and have a significantly lower Ki-67 labelling index, suggesting they may be terminally differentiated or senescent.

The focus of tumor cells in the stroma occupying most of the field measures < 5 mm and represents low-grade serous carcinoma.

Mucinous borderline tumor with microinvasion is defined as small foci of stromal invasion measuring less than 5 mm in greatest linear extent, with no requirement regarding the number of such foci allowed in a given tumor. It is characterized by single cells, glands, clusters/nests, small foci of confluent glandular or cribriform growth displaying mild to moderate atypical mucinous epithelial cells within the stroma. Similar growth patterns with cells displaying more marked cytological atypia should be classified as “microinvasive carcinoma”.

The spread of and presence of cancer cells that have spread to other organs in the body outside of the primary site.

A rare, benign, ovarian tumor which is probably of stromal origin and characterized by a distinctive microcystic appearance.

Triad of benign ovarian tumor with ascites and pleural effusion that resolves after resection of the tumor. Ovarian fibromas constitute the majority of the benign tumors seen in Meigs syndrome.

A natural process during which a women ceases to have a menstrual period this typically occurs in the late 40s-50s. The ovaries no longer ovulate (i.e., no longer produce eggs) and no longer produce estrogen hormone.

A doctor specialized in the treatment of cancer using hormonal therapy, chemotherapy, and targeted therapy.

A lump or swelling. A mass can be due to excess fluid or an abnormal growth of cells the growth of cells can be benign or malignant.

An ovarian carcinoma usually of transitional cell type, resembling an invasive urothelial carcinoma. Rarely, the tumor is of squamous type. In either case the tumors are associated with a benign or borderline/atypical proliferative Brenner tumor.

The presence of cancer cells spreading into lymphatic channels.

Cancer cells with the ability to invade surrounding tissue and with the potential to metastasize (spread) to lymph nodes and distant organs.

The small channels that carry the lymph fluid throughout the body and drain through lymph nodes.

A type of white blood cell belonging to the immune system. Lymphocytes have many functions, including fighting viruses and cancer.

Small organs comprised of groups of lymphocytes (immune cells) that filter the lymph fluid that flows through the lymphovascular or lymphatic channels through the body. Cancers often first use the lymphatic channels to spread through the body.

A steroid cell tumor composed of Leydig cells, as proven by the presence of cytoplasmic crystals of Reinke. The diagnosis is occasionally tenable in the absence of crystals when other classic features are present.

An invasive carcinoma, usually with distinctive patterns showing low-grade malignant cytological atypia.

An immunostain that marks a gene that is involved in cell proliferation or growth. The degree of Ki67 labeling in a cancer cell correlates to how quickly the tumor is growing and how aggressive it is. The measure ranges from 0% (no cells dividing) to 100% (all cells dividing). See also proliferation index.

Refers to metastatic signet-ring cell carcinomas, which may originate from many anatomic sites, stomach most commonly.

Implants display the features of invasion, specifically small, solid nests of cells surrounded by a space, micropapillae and/or cribriform growth, behave in a similar manner to clear-cut invasive carcinoma. As such, invasive implants are equal to invasive low-grade serous carcinoma.

A distinctive type of granulosa cell tumor that occurs mainly in children and young adults.

A pattern of growth where the cancer cells grow into (invade) the surrounding tissues (see also infiltrating).

The result of the presence of immune cells (“inflammatory” cells) to a part of the body. Areas of the body that are inflamed often look swollen and red.

Something that occurs during an operation. For instance, a frozen section is done intraoperatively.

A pattern of growth where the cancer cells grow into (invade) the surrounding tissues (see also invasive).

A type of laboratory test that can detect the proteins expressed by a cell. The test uses special antibodies (“immunostains”) that each binds to a particular protein in question the immunostain will change the color of the tissue to show whether a protein is present. Examples include immunohistochemistry to look for the expression of the estrogen receptor (ER) and progesterone receptor (PR) in ovarian cancer cells.

A type of treatment that uses the immune system to fight cancer these therapies target proteins expressed by immune cells or on the cancer cell.

A teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.

The body’s natural defense against infection with microorganisms such as bacteria and viruses. The immune cells are constantly on the lookout for cells that look “foreign.” In addition to microorganism, immune cells can also recognize cancer cells as “foreign,” since the cancer cells may express abnormal proteins. In this way, the immune system can sometimes be a part of the body’s attack against cancer.

A substance released into the blood that influence how other tissue behave and grow. Examples include estrogen, progesterone, and androgen.

A receptor protein that binds hormones within a cell in order to affect changes within the cell. Tumors with high numbers of hormone receptors need hormones to grow.

Relating to appearance of cells and tissues under the microscope.

A form of systemic treatment that blocks hormones from getting to the cancers that have hormone receptors.

A carcinoma composed of epithelial cells displaying papillary, glandular (often slit-like) and solid patterns with high-grade nuclear atypia.

The area of tissue that is seen at a microscope’s highest magnification (i.e., the most “zoomed in”).

A steroid cell tumor composed of Leydig cells. Ovarian Leydig cell tumors have been divided into two subtypes by some pathologists, the hilus cell tumor and the Leydig cell tumor, nonhilar type. The former, which is much more common, originates in the ovarian hilus from hilar Leydig cells, which have been identified in 80–85% of adult ovaries.

A type of dye that is applied to tissue sections so that the cells absorb the color and can be seen with the eye when looking under the microscope. This dye turns the nuclei blue and the cytoplasm pink.

A histologic description of how closely the cancer cells resemble their normal cell of origin. In general, the overall grade score is calculated by looking at the mitotic rate, the nuclear grade or atypia, and the degree of gland formation. The final grade will be either grade 1, 2 or 3 or low-grade and high-grade. In general, a higher tumor grade is associated with more aggressive behavior.

A small, thin rectangular piece of glass where tissue slices from a biopsy or a surgical specimen are placed and stained with dye so that the tissue can be evaluated under a microscope.

A tumor consisting of a mixture of immature sex cord cells and germ cells which can be viewed as an “in situ” form of malignant germ cell tumor.

Tissues in the body that make protein secretions glands are shaped like small round structures. Cancers that arise from glands are called “adenocarcinomas” (see also mammary gland).

A mutation in DNA that is present at birth and that can be transferred from parent to child.

A change in a cell’s DNA. Some mutations lead to a favorable change in gene or protein’s function, an unfavorable change, a loss of function, or no change at all (see also mutation).

A test of a patient’s DNA to look for specific gene mutations or other abnormalities that might cause cancer or other conditions.

A meeting between a patient and a medical geneticist or counselor to discuss the potential impact of a genetic test result on the health of a patient and for their family.

A member of the healthcare team specialized in diagnosing and interpreting genetic test results. A geneticist might be consulted to help understand germline or somatic mutations.

A method that pathologists can perform intra-operatively (i.e., while a surgery is underway) to quickly freeze a piece of tissue from the patient in order to take thin slices and make a slide to evaluate “in real time” while the surgery is still ongoing. The results are only preliminary, however, and must be confirmed with review of the final FFPE sections.

A sequence of nucleotides in DNA that encodes the synthesis of a gene product, either RNA or protein.

A physiological cyst lined by granulosa cells, usually underlain by theca cells.

A term used to describe how fresh tissue samples are processed and stored so that slides of the tissue can be made and examined by a pathologist. The fresh tissues are “fixed” in a preservative called formalin, so that the tissues will not degrade or decompose. They are then “embedded” into paraffin wax, which means they are placed into a little block or wax similar to candle wax so that they can be easily sliced into thin slices and placed on a glass slide for a pathologist to review.

The medical history of all of the biological (blood-related) members of a family this family medical history can show patterns of shared diseases. Because you share genes with your family members, a “positive family history” of certain diseases may be considered a risk factor for an individual to develop the disease.

A benign stromal tumor composed of spindled to ovoid fibroblastic cells producing collagen.

A rare, primitive, germ cell neoplasm that shows rudimentary epithelial differentiation and is morphologically identical to its testicular counterpart.

A primitive malignant germ cell tumor characterized by a variety of distinctive histological patterns, some of which recapitulate phases in the development of the normal yolk sac.

The major female sex hormone, responsible for many physiologic functions in the body. Estrogen is made by the ovaries and adrenal gland. Estrogen causes the normal growth of many cell types. Some cancers require estrogen to grow.

The protein responsible for binding to and detecting estrogen in the body the receptor is located in the nucleus of many cell types. Many gynecologic cancers express the estrogen receptor.

The layer of cells that lines the outside of the body, lines the inside of the body cavities, and lines the outside and inside of body organs. Epithelium is one of four types of tissues in the body the other three types are connective tissue (like fat and fibrous tissue), muscle tissue, and neural/nervous system tissue. The epithelium lining each of the surfaces in the body has different names for instance, the epithelium lining the outside of the body is called skin, and the epithelium lining the inside of the chest cavity is called the pleura.

A malignant, epithelial tumor resembling endometrioid carcinoma of the uterine corpus.

A type of cell in the body that makes up many different tissue types that line the body surface (such as the “squamous epithelium” of the skin) and the body cavities. The epithelial cell is the cell or origin of carcinomas.

Cystic forms of endometriosis. They may or may not be associated with endometriosis elsewhere in the pelvis.

Endometrioid cystadenoma is a cystic lesion lined by benign endometrioid epithelium lacking the stroma, typical vasculature and other stigmata of endometriosis. When associated with a dense fibromatous component the tumor is an endometrioid adenofibroma.

Endometriosis occurs when tissue that normally lines the uterus, known as endometrium, grows in areas outside the uterus, such as on the ovaries or fallopian tubes.

A primitive germ cell tumor composed of cells showing no specific pattern of differentiation

Swelling of a part of the body from excess fluid (see also lymphedema).

The molecule which contains all of your genes, located within a cell’s nucleus, a long, complex molecule with which your genes are encoded.

A tumor composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). Tumors are usually cystic (mature cystic teratoma), but rarely solid (mature solid teratoma).

A cystic corpus luteum > 3 cm in diameter.

A type of imaging that uses X-rays to take 3-dimensional images.

The portion of a cell outside the nucleus, but still within the cell membrane.

A malignant tumor composed of clear, eosinophilic and hobnail cells, displaying a combination of tubulocystic, papillary and solid patterns.

A study organized by a hospital, organization, or other group to systematically and thoroughly investigate a new medication, technique, or other approach to treatment. Clinical trials are extensively monitored to make sure that they are conducted in a safe, ethical, and equitable manner.

A consultation in pathology occurs when a specimen is sent to a second (or sometimes third) institution to review the findings. This can occur when other pathologists need assistance with a particularly challenging or rare case, or if a patient or clinician would like a second opinion on a case.

A systemic medication used to treat cancer that kills cells that are dividing. Sometimes this results in undesired side effects, such as hair loss, because the chemotherapy drugs also kill normal body cells that are dividing.

A tumor composed of glands or cysts lined by bland cuboidal to flattened cells with clear or eosinophilic cytoplasm embedded in a fibromatous stroma.

A type of cancer arising from an epithelial cell.

A non-invasive, clonal proliferation of epithelial cells that has does not have the capacity to invade into the normal tissue or to spread through the body. This is sometimes called “pre-cancer.”

Biphasic neoplasm composed of high-grade, malignant, epithelial and mesenchymal elements.

A neoplastic (clonal) growth of cells with the potential to metastasize (spread throughout the body). Cancers can arise from epithelial cells (“carcinomas”), melanocytes (“melanomas"), stromal or connective tissue cells (“sarcomas”), and lymphoid cells (“lymphomas and leukemias”).

Well-differentiated neuroendocrine neoplasms that resemble carcinoids of the gastrointestinal tract.

Follicle-like small eosinophilic fluid-filled punched out spaces between granulosa cells. The granulosa cells are usually arranged haphazardly around the space.

A tumor composed of nests of bland, transitional-type cells (resembling urothelial cells) within a fibromatous stroma.

A member of the mucin family glycoproteins. Testing of CA-125 blood levels has been proposed as useful in treating ovarian cancer.

A human tumor suppressor gene responsible for repairing DNA. BRCA2 germline mutation is related to hereditary breast–ovarian cancer syndrome.

A tubular structure that carry blood both to and from various parts of the body. This includes arteries, veins, and capillaries.

A human tumor suppressor gene responsible for repairing DNA and regulating transcription. BRCA1 germline mutation is related to hereditary breast–ovarian cancer syndrome.

Involving “both sides”, such as both ovaries and fallopian tubes. This is in contrast to unilateral, which means on one side only.

A surgical procedure in which a surgeon removes both ovaries.

Any chemical or protein created by the body that can be measured, and can be used to provide useful information such as whether a cancer is growing or shrinking during treatment. Biomarkers can also provide information about the prognosis of a cancer (prognostic biomarker), as well as whether a cancer will respond to certain therapies (predictive biomarker).

Non-cancerous. A benign tumor cannot invade nearby tissues or spread to other parts of the body.

Non-invasive tumors that display greater epithelial proliferation and cytological atypia than benign serous tumors but less than low-grade serous carcinoma (LGSC).

A solid or cystic tumor composed of crowded glands lined by atypical endometrioid-type cells and lacking destructive stromal invasion and/or confluent glandular growth.

Tumors composed of mild to moderately atypical gastrointestinal-type, mucincontaining epithelial cells that show proliferation greater than that seen in benign mucinous tumors. Stromal invasion is absent.

A non-invasive, proliferative, epithelial tumor composed of more than one epithelial cell type, most often serous and endocervical-type mucinous however, endometrioid, and less often, clear cell, transitional or squamous may be seen.

A neoplasm of transitional cell type (resembling non-invasive, low-grade, urothelial neoplasms) displaying epithelial proliferation beyond that seen in benign Brenner tumors and lacking stromal invasion.

Clear cell adenofibromatous tumors with atypia of the glandular epithelium but without stromal invasion.

Alpha-fetoprotein (AFP) is a glycoprotein that is produced in early fetal life by the liver and by a variety of tumors including hepatocellular carcinoma, hepatoblastoma, and nonseminomatous germ cell tumors of the ovary and testis.

Ascites is the abnormal buildup of fluid in the abdomen. It can be caused by cancer such as ovarian cancer.

Adjuvant therapy is any treatment given in addition to surgery. It can include chemotherapy, radiation therapy, or other treatment. This is in contrast to neoadjuvant chemotherapy, which is given before surgery.

A low-grade malignant, sex cord-stromal tumor composed of granulosa cells often with a variable number of fibroblasts and theca cells.

A rare biphasic tumor with malignant mesenchymal and benign to atypical epithelial components.

A biphasic tumor composed of an admixture of Müllerian epithelium and stroma, both components being benign.

A type of carcinoma (cancer) that arises from glandular epithelial cells.

The collection of excess amounts of fluid in the abdominal cavity (belly). It often is a sign that the cancer has spread to either the liver or the portal vein that goes to the liver. If normal liver function is affected, a complex set of biochemical checks and balances is disrupted and abnormal amounts of fluid are retained.

Analysis to determine the presence, absence, or quantity of one or more components.

Usually a protein or carbohydrate substance capable of stimulating an immune response.

A condition marked by a diminished appetite and aversion to food. Often results in physical signs of wasting.

Any of a large number of proteins that are produced normally by specialized B cells after stimulation by an antigen and act specifically against the antigen in an immune response.

A condition characterized by a deficiency in red blood cells. This can lead to fatigue, among other symptoms.

A radiographic technique used to visualize blood vessels. A contrast medium (a dye) is usually injected into the vessels to make them appear white on the x-rays.

Cancer cells that divide rapidly and revert to an undifferentiated form with no orientation to one another.

A benign (non-cancerous) tumor made up of cells that form glands (collections of cells surrounding an empty space).

Chemotherapy given to patients after their cancers have been surgically removed. It is a secondary treatment given to supplement surgical treatment. (see Neoadjuvant chemotherapy)

A series of x-ray pictures taken of the abdomen by a machine that encircles the body like a giant tube. Computers are then used to generate cross-sectional images of the inside of the body.


Interactive resources for schools

Home / Hormones and their effects

In vitro fertilisation

In vitro fertilisation is a form of infertility treatment where ova are removed from a woman and fertilised outside of the body by sperm. The resulting zygotes are allowed to develop for a few days before one or at most two embryos are returned to the uterus to implant and develop.

Genetic engineering

Genetic engineering involves changing the DNA of an organism, usually by deleting, inserting or editing a gene to produce desired characteristics.

Ultrasound

High frequency sound which cannot be heard by human beings

Cancer

A mass of abnormal cells which keep multiplying in an uncontrolled way.

Hormone replacement therapy is treatment given to women who are suffering the unpleasant symptoms of the menopause.

Sex Hormones - Pregnancy

Sex hormones are responsible for some of the most dramatic changes that occur in the body. They control puberty, egg and sperm production, pregnancy, birth and lactation (breastfeeding).

Pregnancy

If a fertilised egg starts to grow in the uterus, that is, the woman is pregnant, her periods stop.

This happens because, during pregnancy, progesterone continues to be produced. This maintains the thicker lining of the uterus and stops the development of any more eggs in the ovaries.

Birth and Breastfeeding

When the baby has been growing for about 9 months, the pituitary gland produces a hormone called oxytocin which starts contractions of the uterus.

At birth the level of progesterone falls and the pituitary produces another hormone, prolactin which causes the production of milk. Oxytocin and prolactin are involved in the ejection of milk from the breasts and the continued production of milk throughout breastfeeding.

In-Vitro Fertilisation (IVF)

Sometimes a woman is unable to become pregnant. If this is due to eggs not maturing in the ovaries each month, it can be treated with FSH. As the name suggests, this hormone stimulates the follicles in the ovaries to produce mature eggs.

It might be necessary to remove the mature eggs from the woman´s body and mix them with sperm in a laboratory. This is known as In-Vitro Fertilisation (IVF). Some of the fertilised eggs that result from IVF are then placed in the woman´s uterus where they can develop as normal.

An ultrasound image of a developing baby

Several thousand sperm are added to each egg

Contraception

To stop pregnancy from happening, the contraceptive pill can be taken. This contains female sex hormones, often a combination of oestrogen and progesterone, which prevent ovulation by mimicking pregnancy.

The Menopause and HRT

When the ovaries stop producing eggs (usually in a woman´s 50s) there is a drop in the production of the female sex hormones. This causes changes in a woman's body (known as the Menopause), some of which, such as hot flushes, night sweats and mood swings, may be uncomfortable. HRT, Hormone Replacement Therapy, is prescribed to relieve these symptoms.

Usually HRT is a mixture of oestrogen and progesterone, the oestrogen to relieve the symptoms and the progesterone to protect against cancer of the uterus. If the woman has had her uterus removed, then an oestrogen only pill can be used. Previously equine oestrogen and a synthetic progesterone were used. Now, because we have the advantage of genetic engineering, the use of human sex hormones is possible.

Recent research has shown that there are increased risks of developing bloods clots and cardiovascular problems associated with certain types of HRT. It is thought that some of the potential problems could be minimised by applying HRT to the skin rather than being taken as tablets. Also alternative therapies are being considered, for example:


9 ways in which your body will change after hysterectomy

The uterus has some pretty impressive functions like expanding many times its original size to accommodate a baby during pregnancy and providing support to the bladder and the pelvic bones. However, problems such as fibroids, endometriosis and uterine cancer force many women to undergo hysterectomy, where a part of the uterus or the entire organ is removed. When such an important organ is removed, there are bound to be some changes in the woman s body. Dr Maya Lulla, Consultant Obstetrician and Gynaecologist at Nanavati Super Speciality Hospital uncovers some of the ways in which your life might change after a hysterectomy. Also Read - Sweet Tip To Reduce Blood Sugar Levels Post Menopause: Start Your Day With Chocolates

No weight gain: It s a misconception that many women put on weight after a hysterectomy. The real culprit here, according to Dr Lulla, is not the hysterectomy or the loss of uterus itself, but the inactivity on the part of the women. Many women limit their physical mobility and exercise after they undergo hysterectomy, explains Dr Lulla. They should be more active.” Also Read - Diminished Ovarian Reserve: Options to deal with reduced fertility

Ovarian functions may diminish: Dr Lulla says even in cases where there the ovaries have been kept intact, the loss of ovarian functions may happen over a period of time. Uterus and the ovaries share blood supply, so it is evitable that once the uterus is removed the ovaries stop functioning to their fullest capacity. Also Read - Is Your Mother Eating Right? Expert Explains Why You Need To Prioritize Mother's Nutrition

Mood swings become more apparent: The hormonal changes brought about through the hysterectomy manifests as mood swings and irritability. The body is deprived of oestrogen which boosts female emotional health. This causes many women to turn cranky after the surgery, adds Dr Lulla. Read what causes mood swings and how you can deal with them.

Get ready for more hot flashes: Hormonal fluctuations resulting from the low oestrogen causes the blood vessels close to your skin to dilate causing more blood to rush to the surface. This results in waves of warm sensation with outbreaks of sweats any time of the day. Read which foods could be causing hot flashes.

Heart becomes more vulnerable: Usually, there are more cases of men being affected by heart problems than women. This is because oestrogen protects women from heart attacks, says Dr Lulla. After hysterectomy, low oestrogen levels in the body makes women more prone to cardiac issues.

Bones become fragile: After hysterectomy, bones in your body get weaker. Again, the cause is low levels of oestrogen. According to Dr Lulla, this situation can be mitigated by including calcium-rich food in the diet.

Loss of height: Shocking as it may seem, but there is a great chance of reduction in your height after hysterectomy. Dr Lulla says, Bone problems resulting from low oestrogen cause the space between two vertebrae to reduce. This problem also causes nerves to jam between the bones, giving rise to issues like frozen shoulder.

Bladder problems increase: Since the uterus provides support to the bladder and the bowels, urinary incontinence is seen among women who undergo hysterectomy. Even sneezing and laughing may cause loss of bladder control in such cases.

Difficulty having sex: Although your sex life doesn t come to a grinding stop after hysterectomy, it is never the same as before. Often, the top of the vaginal canal is sutured shut after the removal of the uterus. The procedure can also affect the flexibility of the vaginal tissue, making sex difficult. In addition to this, vaginal dryness causes friction and pain during intercourse.


Understanding Cancer Stage

Historically defined as disease recurrence within 6 months of completion of first-line platinum-based chemotherapy, although this is now more broadly applied to also include patients progressing within 6 months after multiple lines of chemotherapy.

(of cells or tissues) Obtained from the same individual.

The degree to which a substance (a toxin or poison) can harm humans.

This chemotherapy technique delivers chemotherapy drugs directly into the abdominal cavity through a catheter (thin tube).

A surgical procedure that removes your uterus through an incision in your lower abdoman.

Also known as a BSO, is a surgical procedure in which both of the ovaries and the fallopian tubes are removed.

A surgical procedure designed to remove the omentum, which is a thin fold of abdominal tissue that encases the stomach, large intestine and other abdominal organs.

Removal of the affected ovary and fallopian tube.

A primary ovarian tumor with features similar to those of the kidney tumor of the same name.

Also called sonography or diagnostic medical sonography, is an imaging method that uses high-frequency sound waves to produce images of structures within your body. The images can provide valuable information for diagnosing and treating a variety of diseases and conditions.

A multidisciplinary meeting of the physicians and caretakers involved in cancer care, including pathologists, surgical oncologists, medical oncologists, radiologists, nurses and genetic counselors to discuss the treatment plans for individual patients.

A mass or a lump. A tumor mass can be nonneoplastic and be due to something like swelling or inflammation. A tumor mass can also be neoplastic, and includes both benign and malignant tumors.

The process by which the body reads the code in RNA to make proteins.

An inflammatory mass found in the fallopian tube, ovary and adjacent pelvic organs.

Thecomas are stromal tumors containing a significant number of cells with appreciable cytoplasm resembling to varying degrees theca cells.

The process by which DNA is copied to make RNA.

A type of treatment that specifically targets a single molecule or pathway involved in cancer cell growth and progression.

A mature teratoma composed either exclusively or predominantly of thyroid tissue.

Any change noted by a patient that could be caused by a disease.

A disease that widely affects the entire body.

A treatment that can reach cancer cells that have potentially spread throughout the body. Examples include chemotherapy, hormone therapy, and targeted therapy. Systemic therapies can have side effects due to effects on normal body cells, such as hair loss or gastrointestinal distress.

A tumor composed entirely of cells resembling steroid-secreting cells that lack Reinke crystals.

A non-neoplastic, benign proliferation of ovarian stromal cells without associated luteinized stromal cells.

Presence of luteinized cells in the ovarian stroma, typically associated with stromal hyperplasia.

A gene mutation that occurs spontaneously in the body tissues or in the cancer cells that cannot be passed on to offspring (i.e., it cannot be inherited).

A measure of how much a cancer has grown and/or spread in the body (i.e., how advanced a cancer is). The most common staging system is the TNM system, which stands for Tumor, lymph Nodes, and Metastasis. FIGO stage is based on the International Federation of Gynecology and Obstetrics system.

The term for the usual treatment given for a particular disease, which is based on past research and experience proving the treatment’s efficacy and safety.

An uncommon, sex cord-stromal tumor with a distinctive pattern of simple and complex annular tubules.

A benign, stromal tumor containing cells with signet-ring morphology but without intracytoplasmic mucin, glycogen or lipid, in a background fibromatous stroma.

An undifferentiated neoplasm, predominantly composed of small cells, but occasionally with a large cell component, and which is often associated with paraneoplastic hypercalcemia. The tumor is unrelated to small cell carcinoma of neuroendocrine (pulmonary) type.

These tumors are characterized by epithelial cell types resembling those of the fallopian tube, including ciliated cells. The epithelial component may be associated with a prominent component of stromal cells (cystadenofibroma, adenofibroma), may lack a stromal component (cystadenoma) or be entirely a surface papillary lesion (surface papilloma). Combinations of these growth patterns occur.

A neoplasm composed of Sertoli cells arranged in a variety of patterns, but most commonly as hollow or solid tubules.

Tumors are composed of variable proportions of Sertoli cells, Leydig cells and in the case of moderately and poorly differentiated neoplasms, primitive gonadal stroma and sometimes heterologous elements.

The process of having a second set of doctors look at your unique medical situation to provide a second opinion on the diagnosis and/or treatment plan.

A benign cystic neoplasm with two or more Müllerian cell types, all accounting for at least 10% of the epithelium. Rare tumors have more prominent fibrous stroma (adenofibroma).

A carcinoma composed predominantly of serous and endocervical-type mucinous epithelium. Foci containing clear cells and areas of endometrioid and squamous differentiation are not uncommon.

mRNA molecules are a copy of the genetic information encoded in DNA, and the RNA copy is then used to create proteins.

A cancer that arises from the connective tissue of the body. Examples include angiosarcoma (arising from blood vessels) and leiomyosarcoma (arising from smooth muscle cells).

A benign, stromal tumor composed of admixed rounded and spindled cells, arranged in cellular nodules in a hypocellular, edematous or collagenous background stroma.

A term used to describe testing used to look for a disease before it has caused symptoms.

A research study in which patient records and files are reviewed to look for results (outcomes) that already occurred in the past.

The chance or probability of developing a disease in a given period of time.

Anything that increases the risk of developing a disease. For ovarian cancer, these include family history and age.

Resident physicians are physicians who have finished medical school and are now studying a specific area in depth, such as pathology, internal medicine, surgery, pediatrics, radiology, and more.

A type of research study in which patients are randomly assigned into treatment groups, either to receive an experimental treatment (“intervention group”) or standard treatment (“control group”).

When a cancer returns after previously having been eliminated. This can be a local recurrence in the area where the cancer was first detected, or a distant recurrence when the cancer metastases to a new organ.

A treatment for some forms of cancer that uses high energy radiation to damage the DNA of the cells. This is a form of local therapy

A physician who specializes in using targeted radiation therapy to kill tumor cells in a specific area.

Round microscopic calcific collections.

A term used describe treatments that are done before a disease occurs to prevent the disease from happening.

A research study that is conducted using new patients and following their course to observe the outcome.

A term used to describe continued growth of a cancer.

A measure of how rapidly a tumor is growing by assessing how many cells are dividing. The measure ranges from 0% (no cells dividing) to 100% (all cells dividing). (See also Ki67.)

A term used to describe the expected outcome of a cancer or disease (i.e., favorable or unfavorable).

A test result that can be used to help predict a patient’s prognosis. For instance, the expression of the estrogen receptor (ER) and progesterone receptor (PR) are favorable prognostic features.

The protein responsible for binding to and detecting progesterone in the body the receptor is located in the nucleus of many cell types. Some cancers express the progesterone receptor and are termed “hormone receptor positive” cancers.

A sex hormone made by the body that is part of the estrogen signaling pathway.

One or more hyperplastic nodules of large, luteinized cells developing during the latter half of pregnancy and involuting spontaneously during the puerperium.

A term that describes variation in size and shape of a cell’s nucleus.

A hormonal disorder causing enlarged ovaries with small cysts on the outer edges. The cause of polycystic ovary syndrome isn't well understood, but may involve a combination of genetic and environmental factors. Symptoms include menstrual irregularity, excess hair growth, acne, and obesity.

A type of imaging study that uses a radioactive element attached to a sugar molecule to detect parts of the body with rapidly growing cells (which consume more sugar), such as cancer cells.

Near and around the time of menopause.

A method of processing tissue to evaluate it under the microscope the tissue is formalin fixed and paraffin embedded so that it can be thinly sliced and made into slides to review under a microscope.

A physician who specializes in the diagnosis of disease pathologists use a microscope to examine the cells from tissue to determine if the tissue is normal or cancer.

A description for how a cancer has responded to therapy, as seen under the microscope.

A surgical procedure where the ovary is removed.

Ovarian torsion is a condition that occurs when an ovary twists around the ligaments that hold it in place. Ovarian torsion can cause severe pain and other symptoms because the ovary is not receiving enough blood.

Treatments given to relieve pain and symptoms rather than to cure the disease.

The part of a cell that contains the cell’s genetic material, DNA.

The size ratio of the nucleus to the cytoplasm. In many cancers, the nuclear becomes markedly and abnormally enlarged, leading to the abnormal feature of a “high N:C ratio.”

A histologic measure of how closely a cancer cell nucleus resembles that of a normal cell, or a measure of how abnormal a cancer nuclear is. It is generally graded as 1 (resembles normal), 2 (moderately abnormal), and 3 (markedly abnormal).

Relating to the nucleus of a cell.

Peritoneal lesions associated with serous borderline tumor were originally classified as “non-invasive” or “invasive" implants based on whether the lesions were confined to the surface of organs (noninvasive) or infiltrated the underlying tissue (invasive). Implants that display hierarchically branching papillae or detached clusters of cells associated with non-fibrotic stroma that do not invade have been termed “epithelial-type non-invasive implants,” whereas, those composed of clusters of cells embedded in reactive-appearing or dense fibrous tissue that overshadow the epithelial component and appear “tacked on” to the peritoneal surface, have been termed “desmoplastic-type non-invasive implants.” Single cells with eosinophilic cytoplasm may be present in the stroma in the latter type but are not indicative of invasion.

A non-invasive tumor displaying a nonhierarchical branching architecture featuring micropapillary and/or cribriform patterns composed of rounded cells with scant cytoplasm and moderate nuclear atypia.

Therapy that is given to the patient before surgery to attempt to shrink the tumor size. Neoadjuvant therapy is typically chemotherapy or targeted therapy, but can also include hormonal therapy or radiation therapy.

An abnormal growth of cells that are clonal, that is, they arose from each other and share genetic material. Neoplasms can be benign or malignant.

A change in a cell’s DNA. Some mutations lead to a favorable change in a gene or a protein’s function, an unfavorable change, a loss of function, or no change at all (see also genetic mutation).

An approach to patient care that incorporates several disciplines of medicine and allows for communication between physicians and caretakers of different specialties. In ovarian cancer care, this includes genetic counselors, medical oncologists, nurse navigators, pathologists, radiation oncologists, radiologists, and surgical oncologists. By sitting everyone down at one time, medical providers can better coordinate care, leading to better patient care.

A malignant epithelial tumor composed of gastrointestinal-type cells containing intra-cytoplasmic mucin.

An imaging technique that uses a powerful magnetic field and radio waves to take pictures of tissue deep in the body.

A benign, cystic tumor lined by mucinous gastrointestinal-type epithelium or rarely, having prominent fibrous stroma (adenofibroma).

A tumor with two or more types of malignant, primitive, germ cell components. The most common admixture is that of dysgerminoma and yolk sac tumor.

A count of number of dividing cells in a sample. Mitotic counts are generally measured by number of mitotic cells per 10 high power fields (HPF). The more mitotic cells present, the faster the cells are growing.

A device used by pathologists to examine tissue on slides the microscope magnifies the tissue so that pathologist can examine the individual cells and make a diagnosis.

The process by which a cell divides into two cells. Under the microscope, dividing cells can be identified by their exposed chromosomes.

For serous borderline tumor, the term has been applied to clusters of cells in the stroma with abundant eosinophilic cytoplasm, similar to the eosinophilic cells on the surface of papillae, that measure < 5 mm in greatest dimension. These cells are less likely to express estrogen and progesterone receptors and have a significantly lower Ki-67 labelling index, suggesting they may be terminally differentiated or senescent.

The focus of tumor cells in the stroma occupying most of the field measures < 5 mm and represents low-grade serous carcinoma.

Mucinous borderline tumor with microinvasion is defined as small foci of stromal invasion measuring less than 5 mm in greatest linear extent, with no requirement regarding the number of such foci allowed in a given tumor. It is characterized by single cells, glands, clusters/nests, small foci of confluent glandular or cribriform growth displaying mild to moderate atypical mucinous epithelial cells within the stroma. Similar growth patterns with cells displaying more marked cytological atypia should be classified as “microinvasive carcinoma”.

The spread of and presence of cancer cells that have spread to other organs in the body outside of the primary site.

A rare, benign, ovarian tumor which is probably of stromal origin and characterized by a distinctive microcystic appearance.

Triad of benign ovarian tumor with ascites and pleural effusion that resolves after resection of the tumor. Ovarian fibromas constitute the majority of the benign tumors seen in Meigs syndrome.

A natural process during which a women ceases to have a menstrual period this typically occurs in the late 40s-50s. The ovaries no longer ovulate (i.e., no longer produce eggs) and no longer produce estrogen hormone.

A doctor specialized in the treatment of cancer using hormonal therapy, chemotherapy, and targeted therapy.

A lump or swelling. A mass can be due to excess fluid or an abnormal growth of cells the growth of cells can be benign or malignant.

An ovarian carcinoma usually of transitional cell type, resembling an invasive urothelial carcinoma. Rarely, the tumor is of squamous type. In either case the tumors are associated with a benign or borderline/atypical proliferative Brenner tumor.

The presence of cancer cells spreading into lymphatic channels.

Cancer cells with the ability to invade surrounding tissue and with the potential to metastasize (spread) to lymph nodes and distant organs.

The small channels that carry the lymph fluid throughout the body and drain through lymph nodes.

A type of white blood cell belonging to the immune system. Lymphocytes have many functions, including fighting viruses and cancer.

Small organs comprised of groups of lymphocytes (immune cells) that filter the lymph fluid that flows through the lymphovascular or lymphatic channels through the body. Cancers often first use the lymphatic channels to spread through the body.

A steroid cell tumor composed of Leydig cells, as proven by the presence of cytoplasmic crystals of Reinke. The diagnosis is occasionally tenable in the absence of crystals when other classic features are present.

An invasive carcinoma, usually with distinctive patterns showing low-grade malignant cytological atypia.

An immunostain that marks a gene that is involved in cell proliferation or growth. The degree of Ki67 labeling in a cancer cell correlates to how quickly the tumor is growing and how aggressive it is. The measure ranges from 0% (no cells dividing) to 100% (all cells dividing). See also proliferation index.

Refers to metastatic signet-ring cell carcinomas, which may originate from many anatomic sites, stomach most commonly.

Implants display the features of invasion, specifically small, solid nests of cells surrounded by a space, micropapillae and/or cribriform growth, behave in a similar manner to clear-cut invasive carcinoma. As such, invasive implants are equal to invasive low-grade serous carcinoma.

A distinctive type of granulosa cell tumor that occurs mainly in children and young adults.

A pattern of growth where the cancer cells grow into (invade) the surrounding tissues (see also infiltrating).

The result of the presence of immune cells (“inflammatory” cells) to a part of the body. Areas of the body that are inflamed often look swollen and red.

Something that occurs during an operation. For instance, a frozen section is done intraoperatively.

A pattern of growth where the cancer cells grow into (invade) the surrounding tissues (see also invasive).

A type of laboratory test that can detect the proteins expressed by a cell. The test uses special antibodies (“immunostains”) that each binds to a particular protein in question the immunostain will change the color of the tissue to show whether a protein is present. Examples include immunohistochemistry to look for the expression of the estrogen receptor (ER) and progesterone receptor (PR) in ovarian cancer cells.

A type of treatment that uses the immune system to fight cancer these therapies target proteins expressed by immune cells or on the cancer cell.

A teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies.

The body’s natural defense against infection with microorganisms such as bacteria and viruses. The immune cells are constantly on the lookout for cells that look “foreign.” In addition to microorganism, immune cells can also recognize cancer cells as “foreign,” since the cancer cells may express abnormal proteins. In this way, the immune system can sometimes be a part of the body’s attack against cancer.

A substance released into the blood that influence how other tissue behave and grow. Examples include estrogen, progesterone, and androgen.

A receptor protein that binds hormones within a cell in order to affect changes within the cell. Tumors with high numbers of hormone receptors need hormones to grow.

Relating to appearance of cells and tissues under the microscope.

A form of systemic treatment that blocks hormones from getting to the cancers that have hormone receptors.

A carcinoma composed of epithelial cells displaying papillary, glandular (often slit-like) and solid patterns with high-grade nuclear atypia.

The area of tissue that is seen at a microscope’s highest magnification (i.e., the most “zoomed in”).

A steroid cell tumor composed of Leydig cells. Ovarian Leydig cell tumors have been divided into two subtypes by some pathologists, the hilus cell tumor and the Leydig cell tumor, nonhilar type. The former, which is much more common, originates in the ovarian hilus from hilar Leydig cells, which have been identified in 80–85% of adult ovaries.

A type of dye that is applied to tissue sections so that the cells absorb the color and can be seen with the eye when looking under the microscope. This dye turns the nuclei blue and the cytoplasm pink.

A histologic description of how closely the cancer cells resemble their normal cell of origin. In general, the overall grade score is calculated by looking at the mitotic rate, the nuclear grade or atypia, and the degree of gland formation. The final grade will be either grade 1, 2 or 3 or low-grade and high-grade. In general, a higher tumor grade is associated with more aggressive behavior.

A small, thin rectangular piece of glass where tissue slices from a biopsy or a surgical specimen are placed and stained with dye so that the tissue can be evaluated under a microscope.

A tumor consisting of a mixture of immature sex cord cells and germ cells which can be viewed as an “in situ” form of malignant germ cell tumor.

Tissues in the body that make protein secretions glands are shaped like small round structures. Cancers that arise from glands are called “adenocarcinomas” (see also mammary gland).

A mutation in DNA that is present at birth and that can be transferred from parent to child.

A change in a cell’s DNA. Some mutations lead to a favorable change in gene or protein’s function, an unfavorable change, a loss of function, or no change at all (see also mutation).

A test of a patient’s DNA to look for specific gene mutations or other abnormalities that might cause cancer or other conditions.

A meeting between a patient and a medical geneticist or counselor to discuss the potential impact of a genetic test result on the health of a patient and for their family.

A member of the healthcare team specialized in diagnosing and interpreting genetic test results. A geneticist might be consulted to help understand germline or somatic mutations.

A method that pathologists can perform intra-operatively (i.e., while a surgery is underway) to quickly freeze a piece of tissue from the patient in order to take thin slices and make a slide to evaluate “in real time” while the surgery is still ongoing. The results are only preliminary, however, and must be confirmed with review of the final FFPE sections.

A sequence of nucleotides in DNA that encodes the synthesis of a gene product, either RNA or protein.

A physiological cyst lined by granulosa cells, usually underlain by theca cells.

A term used to describe how fresh tissue samples are processed and stored so that slides of the tissue can be made and examined by a pathologist. The fresh tissues are “fixed” in a preservative called formalin, so that the tissues will not degrade or decompose. They are then “embedded” into paraffin wax, which means they are placed into a little block or wax similar to candle wax so that they can be easily sliced into thin slices and placed on a glass slide for a pathologist to review.

The medical history of all of the biological (blood-related) members of a family this family medical history can show patterns of shared diseases. Because you share genes with your family members, a “positive family history” of certain diseases may be considered a risk factor for an individual to develop the disease.

A benign stromal tumor composed of spindled to ovoid fibroblastic cells producing collagen.

A rare, primitive, germ cell neoplasm that shows rudimentary epithelial differentiation and is morphologically identical to its testicular counterpart.

A primitive malignant germ cell tumor characterized by a variety of distinctive histological patterns, some of which recapitulate phases in the development of the normal yolk sac.

The major female sex hormone, responsible for many physiologic functions in the body. Estrogen is made by the ovaries and adrenal gland. Estrogen causes the normal growth of many cell types. Some cancers require estrogen to grow.

The protein responsible for binding to and detecting estrogen in the body the receptor is located in the nucleus of many cell types. Many gynecologic cancers express the estrogen receptor.

The layer of cells that lines the outside of the body, lines the inside of the body cavities, and lines the outside and inside of body organs. Epithelium is one of four types of tissues in the body the other three types are connective tissue (like fat and fibrous tissue), muscle tissue, and neural/nervous system tissue. The epithelium lining each of the surfaces in the body has different names for instance, the epithelium lining the outside of the body is called skin, and the epithelium lining the inside of the chest cavity is called the pleura.

A malignant, epithelial tumor resembling endometrioid carcinoma of the uterine corpus.

A type of cell in the body that makes up many different tissue types that line the body surface (such as the “squamous epithelium” of the skin) and the body cavities. The epithelial cell is the cell or origin of carcinomas.

Cystic forms of endometriosis. They may or may not be associated with endometriosis elsewhere in the pelvis.

Endometrioid cystadenoma is a cystic lesion lined by benign endometrioid epithelium lacking the stroma, typical vasculature and other stigmata of endometriosis. When associated with a dense fibromatous component the tumor is an endometrioid adenofibroma.

Endometriosis occurs when tissue that normally lines the uterus, known as endometrium, grows in areas outside the uterus, such as on the ovaries or fallopian tubes.

A primitive germ cell tumor composed of cells showing no specific pattern of differentiation

Swelling of a part of the body from excess fluid (see also lymphedema).

The molecule which contains all of your genes, located within a cell’s nucleus, a long, complex molecule with which your genes are encoded.

A tumor composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). Tumors are usually cystic (mature cystic teratoma), but rarely solid (mature solid teratoma).

A cystic corpus luteum > 3 cm in diameter.

A type of imaging that uses X-rays to take 3-dimensional images.

The portion of a cell outside the nucleus, but still within the cell membrane.

A malignant tumor composed of clear, eosinophilic and hobnail cells, displaying a combination of tubulocystic, papillary and solid patterns.

A study organized by a hospital, organization, or other group to systematically and thoroughly investigate a new medication, technique, or other approach to treatment. Clinical trials are extensively monitored to make sure that they are conducted in a safe, ethical, and equitable manner.

A consultation in pathology occurs when a specimen is sent to a second (or sometimes third) institution to review the findings. This can occur when other pathologists need assistance with a particularly challenging or rare case, or if a patient or clinician would like a second opinion on a case.

A systemic medication used to treat cancer that kills cells that are dividing. Sometimes this results in undesired side effects, such as hair loss, because the chemotherapy drugs also kill normal body cells that are dividing.

A tumor composed of glands or cysts lined by bland cuboidal to flattened cells with clear or eosinophilic cytoplasm embedded in a fibromatous stroma.

A type of cancer arising from an epithelial cell.

A non-invasive, clonal proliferation of epithelial cells that has does not have the capacity to invade into the normal tissue or to spread through the body. This is sometimes called “pre-cancer.”

Biphasic neoplasm composed of high-grade, malignant, epithelial and mesenchymal elements.

A neoplastic (clonal) growth of cells with the potential to metastasize (spread throughout the body). Cancers can arise from epithelial cells (“carcinomas”), melanocytes (“melanomas"), stromal or connective tissue cells (“sarcomas”), and lymphoid cells (“lymphomas and leukemias”).

Well-differentiated neuroendocrine neoplasms that resemble carcinoids of the gastrointestinal tract.

Follicle-like small eosinophilic fluid-filled punched out spaces between granulosa cells. The granulosa cells are usually arranged haphazardly around the space.

A tumor composed of nests of bland, transitional-type cells (resembling urothelial cells) within a fibromatous stroma.

A member of the mucin family glycoproteins. Testing of CA-125 blood levels has been proposed as useful in treating ovarian cancer.

A human tumor suppressor gene responsible for repairing DNA. BRCA2 germline mutation is related to hereditary breast–ovarian cancer syndrome.

A tubular structure that carry blood both to and from various parts of the body. This includes arteries, veins, and capillaries.

A human tumor suppressor gene responsible for repairing DNA and regulating transcription. BRCA1 germline mutation is related to hereditary breast–ovarian cancer syndrome.

Involving “both sides”, such as both ovaries and fallopian tubes. This is in contrast to unilateral, which means on one side only.

A surgical procedure in which a surgeon removes both ovaries.

Any chemical or protein created by the body that can be measured, and can be used to provide useful information such as whether a cancer is growing or shrinking during treatment. Biomarkers can also provide information about the prognosis of a cancer (prognostic biomarker), as well as whether a cancer will respond to certain therapies (predictive biomarker).

Non-cancerous. A benign tumor cannot invade nearby tissues or spread to other parts of the body.

Non-invasive tumors that display greater epithelial proliferation and cytological atypia than benign serous tumors but less than low-grade serous carcinoma (LGSC).

A solid or cystic tumor composed of crowded glands lined by atypical endometrioid-type cells and lacking destructive stromal invasion and/or confluent glandular growth.

Tumors composed of mild to moderately atypical gastrointestinal-type, mucincontaining epithelial cells that show proliferation greater than that seen in benign mucinous tumors. Stromal invasion is absent.

A non-invasive, proliferative, epithelial tumor composed of more than one epithelial cell type, most often serous and endocervical-type mucinous however, endometrioid, and less often, clear cell, transitional or squamous may be seen.

A neoplasm of transitional cell type (resembling non-invasive, low-grade, urothelial neoplasms) displaying epithelial proliferation beyond that seen in benign Brenner tumors and lacking stromal invasion.

Clear cell adenofibromatous tumors with atypia of the glandular epithelium but without stromal invasion.

Alpha-fetoprotein (AFP) is a glycoprotein that is produced in early fetal life by the liver and by a variety of tumors including hepatocellular carcinoma, hepatoblastoma, and nonseminomatous germ cell tumors of the ovary and testis.

Ascites is the abnormal buildup of fluid in the abdomen. It can be caused by cancer such as ovarian cancer.

Adjuvant therapy is any treatment given in addition to surgery. It can include chemotherapy, radiation therapy, or other treatment. This is in contrast to neoadjuvant chemotherapy, which is given before surgery.

A low-grade malignant, sex cord-stromal tumor composed of granulosa cells often with a variable number of fibroblasts and theca cells.

A rare biphasic tumor with malignant mesenchymal and benign to atypical epithelial components.

A biphasic tumor composed of an admixture of Müllerian epithelium and stroma, both components being benign.

A type of carcinoma (cancer) that arises from glandular epithelial cells.

The collection of excess amounts of fluid in the abdominal cavity (belly). It often is a sign that the cancer has spread to either the liver or the portal vein that goes to the liver. If normal liver function is affected, a complex set of biochemical checks and balances is disrupted and abnormal amounts of fluid are retained.

Analysis to determine the presence, absence, or quantity of one or more components.

Usually a protein or carbohydrate substance capable of stimulating an immune response.

A condition marked by a diminished appetite and aversion to food. Often results in physical signs of wasting.

Any of a large number of proteins that are produced normally by specialized B cells after stimulation by an antigen and act specifically against the antigen in an immune response.

A condition characterized by a deficiency in red blood cells. This can lead to fatigue, among other symptoms.

A radiographic technique used to visualize blood vessels. A contrast medium (a dye) is usually injected into the vessels to make them appear white on the x-rays.

Cancer cells that divide rapidly and revert to an undifferentiated form with no orientation to one another.

A benign (non-cancerous) tumor made up of cells that form glands (collections of cells surrounding an empty space).

Chemotherapy given to patients after their cancers have been surgically removed. It is a secondary treatment given to supplement surgical treatment. (see Neoadjuvant chemotherapy)

A series of x-ray pictures taken of the abdomen by a machine that encircles the body like a giant tube. Computers are then used to generate cross-sectional images of the inside of the body.


Mutations in the SRY gene have been identified in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making the sex-determining region Y protein. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein starts processes that are involved in male sexual development. These processes cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures (uterus and fallopian tubes ). SRY gene mutations that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. A fetus whose cells do not produce functional sex-determining region Y protein will not develop testes but will develop a uterus and fallopian tubes, despite having a typically male karyotype .

Swyer syndrome can also be caused by mutations in the MAP3K1 gene research indicates that mutations in this gene may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a protein that helps regulate signaling pathways that control various processes in the body. These include the processes of determining sexual characteristics before birth. The mutations in this gene that cause Swyer syndrome decrease signaling that leads to male sexual differentiation and enhance signaling that leads to female sexual differentiation, preventing the development of testes and allowing the development of a uterus and fallopian tubes.

Mutations in the DHH and NR5A1 genes have also been identified in small numbers of people with Swyer syndrome. The DHH gene provides instructions for making a protein that is important for early development of tissues in many parts of the body. The NR5A1 gene provides instructions for producing another transcription factor called the steroidogenic factor 1 (SF1). This protein helps control the activity of several genes related to the production of sex hormones and sexual differentiation. Mutations in the DHH and NR5A1 genes affect the process of sexual differentiation, preventing affected individuals with a typically male karyotype from developing testes and causing them to develop a uterus and fallopian tubes.

Changes affecting other genes have also been identified in a small number of people with Swyer syndrome. Nongenetic factors, such as hormonal medications taken by the mother during pregnancy, have also been associated with this condition. However, in most individuals with Swyer syndrome, the cause is unknown.

Learn more about the genes associated with Swyer syndrome

Additional Information from NCBI Gene:


Rare Disease Database

NORD is very grateful to Dennis S. Chi, MD, Deputy Chief, Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, for assistance in the preparation of this report.

Synonyms of Uterine Leiomyosarcoma

General Discussion

A uterine leiomyosarcoma is a rare malignant (cancerous) tumor that arises from the smooth muscle lining the walls of the uterus (myometrium). There are essentially two types of muscles in the body: voluntary and involuntary. Smooth muscles are involuntary muscles the brain has no conscious control over them. Smooth muscles react involuntarily in response to various stimuli. For example, the myometrium stretches during pregnancy to help accommodate the fetus and contracts during labor to help push out a baby during childbirth. Leiomyosarcoma is a form of cancer. The term “cancer” refers to a group of diseases characterized by abnormal, uncontrolled cellular growth that invades surrounding tissues and may spread (metastasize) to distant bodily tissues or organs via the bloodstream, the lymphatic system, or other means. Different forms of cancer, including leiomyosarcomas, may be classified based upon the cell type involved, the specific nature of the malignancy, and the disease’s clinical course. Leiomyosarcoma is classified as a soft tissue sarcoma. Sarcomas are malignant tumors that arise from the connective tissue, which connects, supports and surrounds various structures and organs in the body. Soft tissue includes fat, muscle, never, tendons, tissue surrounding the joints (synovial tissue), and blood and lymph vessels. The exact cause of leiomyosarcoma, including uterine leiomyosarcoma, is unknown.

Signs & Symptoms

Symptoms of uterine leiomyosarcoma may vary from case to case depending upon the exact location, size and progression of the tumor. Many women will not have any apparent symptoms (asymptomatic). The most common symptom is abnormal bleeding from the vagina and the uterus. Postmenopausal bleeding is an important factor that may indicate a uterine leiomyosarcoma.

Additional symptoms may occur including pressure or pain affecting the pelvis or stomach, abnormal vaginal discharge, and a change in bladder or bowel habits. General symptoms often associated with cancer include fatigue, fever, weight loss, and a general feeling of ill health (malaise).

Uterine leiomyosarcomas are malignant and may spread (metastasize) locally and to other areas of the body, especially the lungs and liver often causing life-threatening complications. Leiomyosarcomas recur in more than half of the cases sometimes within eight to 16 months of the initial diagnosis and treatment.

Causes

The exact cause of uterine leiomyosarcoma is unknown. They often occur spontaneously, for no apparent reason. In extremely rare cases, some researchers believe they may signify a malignant change (transformation) of a benign (noncancerous) fibroid. However, other researchers argue that malignant transformation of fibroids is unproven. Fibroids are the most common tumors affecting women and often appear during childbearing years. Fibroids may also be known as leiomyomas or myomas. Most fibroids do not cause any symptoms or complications.

Researchers speculate that genetic and immunologic abnormalities, environmental factors (e.g., exposure to ultraviolet rays, certain chemicals, ionizing radiation), diet, stress, and/or other factors may play contributing roles in causing specific types of cancer. Investigators are conducting ongoing basic research to learn more about the many factors that may result in cancer.

In individuals with cancer, including leiomyosarcoma, malignancies may develop due to abnormal changes in the structure and orientation of certain cells known as oncogenes or tumor suppressor genes. Oncogenes control cell growth tumor suppressor genes control cell division and ensure that cells die at the proper time. The specific cause of changes to these genes is unknown. However, current research suggests that abnormalities of DNA (deoxyribonucleic acid), which is the carrier of the body’s genetic code, are the underlying basis of cellular malignant transformation. These abnormal genetic changes may occur spontaneously for unknown reasons or, more rarely, may be inherited.

Leiomyosarcomas are associated with specific genetic and environmental risk factors. Certain inherited conditions that run in families may increase the risk of developing a leiomyosarcoma. These disorders include Gardner syndrome, Li-Fraumeni syndrome, Werner syndrome, neurofibromatosis and several immune deficiency syndromes. The exact association between leiomyosarcoma and these disorders is not understood. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

Researchers have speculated that exposure to high dose radiation and certain chemicals (e.g., herbicides) may be linked to an increased risk of developing leiomyosarcoma but no definitive link has been established.

Affected Populations

Uterine leiomyosarcoma is an extremely rare form of cancer, estimated to occur in 6 out of every 1,000,000 women in the United States each year. The average age at diagnosis is 51. Uterine leiomyosarcomas account for 1-2 percent of all malignant tumors of the uterus.

Leiomyosarcoma is a form of soft tissue sarcoma. According to the American Cancer Society, 9,530 new cases of soft tissue sarcoma will occur in the United States in 2006. Soft tissue sarcomas affect men slightly more often than women and occur more often in adults than children and adolescents.

Related Disorders

Symptoms of the following disorders can be similar to those of uterine leiomyosarcoma. Comparisons may be useful for a differential diagnosis.

Endometrial carcinoma refers to cancer of the inner membrane lining the uterus (endometrium). It is the most common type of gynecologic cancer in the United States and most cases occur after menopause. Endometrial carcinoma may cause postmenopausal bleeding. In women during their reproductive years, it may cause abnormalities with the menstrual cycle. The exact cause of endometrial carcinoma is unknown but factors known to increase risk are obesity, ingestion of unopposed estrogen, and certain hereditary cancer syndromes.

Uterine fibroids, also known as leiomyomas, are benign smooth muscle tumors of the uterus. These common tumors affect approximately 20 percent of women by the age of 40. Most cases of uterine fibroids do not cause symptoms (asymptomatic) and do not require treatment. These tumors can grow in size to eventually cause heavy menstrual bleeding, prolonged menstrual bleeding, pressure or pain of the pelvis, and abnormalities of the urinary and gastrointestinal tracts. The exact cause of uterine fibroids is unknown.

Diagnosis

The diagnosis of a uterine leiomyosarcoma is most commonly made incidentally when affected individuals are operated on for benign smooth muscle tumors of the uterus (leiomyomas or fibroids). The pathologic review of the fibroid surgery specimens may reveal certain characteristics under the microscope that are more characteristic of a leiomyosarcoma than a benign myoma. Thus, pathologic review is key diagnostic aspect is distinguishing malignant leiomyosarcoma from its benign counterpart, the leiomyoma.

Specialized imaging techniques may be used to help evaluate the size, placement, and extension of the tumor and to serve as an aid for future surgical procedures, among individuals with uterine leiomyosarcomas. Such imaging techniques may include computerized tomography (CT) scanning, magnetic resonance imaging (MRI) and ultrasound. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. During an ultrasound reflected sound waves create an image of the uterus. Laboratory tests and specialized imaging tests may also be conducted to determine possible infiltration of regional lymph nodes and the presence of distant metastases.

To confirm the diagnosis of metastatic leiomyosarcoma a fine-needle aspiration may be performed. Fine-need aspiration (FNA) is a diagnostic technique in which a thin, hollow needle is passed through the skin and inserted into the nodule or mass to withdraw small samples of tissue. The collected tissue is then studied under a microscope. In some cases, FNA may prove inconclusive and physicians may perform an incisional biopsy. During an incisional biopsy, a small sample tissue is surgically removed and sent to a pathology laboratory where it is processed and studied to determine its microscopic structure and makeup (histopathology).

Standard Therapies

The therapeutic management of individuals with a uterine leiomyosarcoma may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of gynecologic cancers (gynecologic oncologists), specialists in the use of radiation to treat cancer (radiation oncologists), specialists in the use of chemotherapy to treat cancer (medical oncologists), oncology nurses, and other specialists.

Specific therapeutic procedures and interventions may vary, depending upon numerous factors, such as primary tumor location, extent of the primary tumor (stage), and degree of malignancy (grade) whether the tumor has spread to lymph nodes or distant sites an individual’s age and general health and/or other elements. Decisions concerning the use of particular interventions should be made by physicians and other members of the health care team in careful consultation with the patient, based upon the specifics of his or her case a thorough discussion of the potential benefits and risks patient preference and other appropriate factors.

The primary form of treatment for a uterine leiomyosarcoma is surgical removal of the entire tumor and any affected tissue. Total surgical removal of the uterus (hysterectomy) is usually performed. Usually, surgical removal of the fallopian tubes and ovaries (bilateral salpingo-oophorectomy) may also be recommended, especially for women who are menopausal or have metastases.

Anti-cancer drugs used alone or combination (chemotherapy) and radiation therapy have been used to treat individuals with leiomyosarcoma following surgery (adjuvant therapy) with limited benefit. Investigational therapies are underway to develop new chemotherapeutic combinations that may prove beneficial in treating leiomyosarcomas. In some cases, radiation therapy may be used before surgery to reduce the size of a tumor.

Because leiomyosarcomas have a high risk of recurrence, individuals should be examined routinely after surgery.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

Medical centers and hospitals that specialize in sarcomas (sarcoma centers) are conducting research into new treatments for individuals with soft tissue sarcomas including new chemotherapeutic drugs, new combinations of chemotherapeutic drugs, angiogenesis inhibitors that prevent the formation of new blood vessels needed to supply blood tumors, and various biologic therapies that involve the immune system in fighting cancer. (For information on sarcoma centers, contact the sarcoma specific nonprofit organizations listed in the Resources section of this report.)

Researchers are studying new diagnostic techniques for detecting uterine leiomyosarcomas including MRI-guided biopsies and a test that combines an MRI scan with a blood test for serum lactic dehydrogenase (LDH). Elevated LDH levels may indicate tissue damage caused by disease such as cancer. More research is necessary to determine the accuracy, safety and effectiveness of such techniques.

Clinical trials are underway to study the use of liposomal doxorubicin chemotherapy in individuals with advanced or recurrent uterine leiomyosarcomas. Another trial is exploring the combination of gemcitabine and docetaxel. Additional drugs being studied for individuals with uterine leiomyosarcomas, either alone or in various combinations, include cyclophosphamide, dacarbazine, topotecan, paclitaxel, etoposide, and hydroxyurea. More research is necessary to determine the long-term safety and effectiveness of these potential treatments for individuals with uterine leiomyosarcomas.

Clinical trials are underway to determine the effectiveness of temozolomide for the treatment of women with uterine leiomyosarcoma that has spread (metastasized) or cannot be treated surgically (unresectable). In initial clinical trials, temozolomide was well tolerated and demonstrated promising therapeutic benefit for affected individuals. More research is necessary to determine the long-term safety and effectiveness of this potential treatment for women with uterine leiomyosarcoma.

Contact for additional information about uterine leiomyosarcoma:

Dennis S. Chi, MD
Deputy Chief, Gynecology Service
Department of Surgery
Memorial Sloan Kettering Cancer Center
1275 York Avenue H 1304
New York, NY 10065
212-639-5016

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      References

      JOURNAL ARTICLES
      Soloman LA, Schimp VL, Ali-Fehmi R, Diamond MP, Munkarah AR. Clinical update of smooth muscle tumors of the uterus. J Minim Invasive Gynecol. 200512:401-8.

      Anderson S, Aghajanian C. Temozolomide in uterine leiomyosarcomas. Gynecol Oncol. 200598:99-103.

      Sutton G, Blessing J, Hanjani P, Kramer P. Phase II evaluation of liposomal doxorubicin (Doxil) in recurrent or advanced leiomyosarcoma of the uterus: a Gynecologic Oncology Group study. Gynecol Oncol. 200596:749-52.

      Brooks SE, Zhan M, Cote T, Baquet CR. Surveillance, epidemiology, and end results analysis of 2677 cases of uterine sarcoma 1989-1999. Gynecol Oncol. 200593:204-8.

      Dinh TA, Oliva EA, Fuller AF Jr., Lee H, Goodman A. The treatment of uterine leiomyosarcoma. Results from a 10-year experience (1990-1999) at the Massachusetts General Hospital. Gynecol Oncol. 200492:648-52.

      Giuntoli RL 2nd, Metzinger DS, DiMarco CS, et al., Retrospective review of 208 patients with leiomyosarcoma of the uterus: prognostic indicators, surgical management, and adjuvant therapy. Gynecol Oncol. 200389:460-9.

      Talbot SM, Keohan ML, Hesdorffer M, et al., A phase II trial of temozolomide in patients with unresectable or metastatic soft tissue sarcoma. Cancer. 200398:1942-6.

      Goto A, Takeuchi S, Sugimura K, Maruo T. Usefulness of Gd-DTPA contrast-enhanced dynamic MRI and serum determination of LDH and its isozymes in the differential diagnosis of leiomyosarcoma from degenerated leiomyoma of the uterus. Int J Gynecol Cancer. 200212:354-61.

      INTERNET
      Chiang JW. Uterine Cancer. eMedicine. http://emedicine.medscape.com/article/258148-overview Updated: Jun 17, 2013. Accessed May 12, 2015.

      Mayo Foundation for Medical Education and Research. Soft tissue sarcoma. http://www.mayoclinic.com/health/soft-tissue-sarcoma/DS00601 Updated Jan. 24, 2015. Accessed May 12, 2015.

      Years Published

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      Gene changes related to ovarian cancer

      Researchers have made great progress in understanding how certain mutations (changes) in DNA can cause normal cells to become cancerous. DNA is the chemical that carries the instructions for nearly everything our cells do. We usually look like our parents because they are the source of our DNA. However, DNA affects more than the way we look. Some genes (parts of our DNA) contain instructions for controlling when our cells grow and divide. Mutations in these genes can lead to the development of cancer.

      Inherited genetic mutations

      A small portion of ovarian cancers occur in women with inherited mutations linked to an increased risk of ovarian cancer. These include mutations in the BRCA1 and BRCA2 genes, as well as the genes related to other family cancer syndromes linked to an increased risk of ovarian cancer, such as PTEN (PTEN tumor hamartoma syndrome), STK11 (Peutz-Jeghers syndrome), MUTYH (MUTYH-associated polyposis, and the many genes that can cause hereditary nonpolyposis colon cancer (MLH1, MLH3, MSH2, MSH6, TGFBR2, PMS1, and PMS2).

      Genetic tests can detect mutations associated with these inherited syndromes. If you have a family history of cancers linked to these syndromes, such as breast and ovarian cancers, thyroid and ovarian cancer, and/or colorectal and endometrial (uterine) cancer, you might want to ask your doctor about genetic counseling and testing. The American Cancer Society recommends discussing genetic testing with a qualified cancer genetics professional before any genetic testing is done. For more on this, see Genetics and Cancer.

      Acquired genetic changes

      Most mutations related to ovarian cancer are not inherited but instead occur during a woman's life and are called acquired mutations. In some cancers, these types of mutations leading to the development of cancer may result from radiation or cancer-causing chemicals, but there is no evidence for this in ovarian cancer. So far, studies haven’t been able to specifically link any single chemical in the environment or in our diets to mutations that cause ovarian cancer. The cause of most acquired mutations remains unknown.

      Most ovarian cancers have several acquired mutations. Research has suggested that tests to identify acquired mutations in ovarian cancers, like the TP53 tumor suppressor gene or the HER2 oncogene, can help predict a woman's prognosis. The role of these tests is still not certain, and more research is needed.


      Study the Male and Female Reproductive Systems

      The organs that comprise the male genital system are the testicles, the epididymis, the vas deferens, the seminal vesicles, the ejaculatory duct, the prostate, the bulbourethral glands, the urethra and the penis.

      More Bite-Sized Q&As Below

      2. Concerning reproduction, what is the function of the testicles?

      The testicles are the male gonads that is, the organs where the production of gametes takes place. In human beings, gametes are produced by meiosis that occurs in the testicles.

      3. After passing the epididymis, through which structures do sperm cells travel until exteriorization?

      After leaving the epididymis in the testicle, sperm cells enter the vas deferens. After that, they receive secretions from seminal vesicles and gather (from the right and left sides) in the ejaculatory duct. They also get secretions from the prostate and the bulbourethral glands and then go through the urethra, inside the penis, to the exterior.

      4. What is the function of the secretions of the prostate, seminal vesicle and bulbourethral glands in reproduction?

      These secretions, along with sperm cells from the testicles, form semen. These secretions have the function of nourishing the sperm cells and serving as a fluid means of propagation for them. The alkaline pH of seminal fluid also neutralizes the acidic secretions of the vagina, allowing the survival of sperm cells in the vaginal environment after copulation.

      5. What endocrine glands regulate sexual activity in males? How does this regulation work and what hormones are involved ?

      In males, sexual activity is regulated by the endocrine glands: the hypophysis (the pituitary), the adrenal glands and the gonads (testicles).

      FSH (follicle-stimulating hormone) secreted by the adenohypophysis acts on the testicles, stimulating spermatogenesis. LH (luteinizing hormone), another adenohypophyseal hormone, also stimulates the production of testosterone by the testicles. Testosterone, the production of which intensifies after the beginning of puberty, acts on several organs of the body and is responsible for the appearance of secondary male sex characteristics (beard, body hair, deep voice, increase in the muscle and bone mass, maturation of genitalia, etc.). Testosterone also stimulates spermatogenesis.

      The Female Reproductive System

      6. What organs are a part of the female reproductive system?

      The organs that make up the female reproductive system are the ovaries, the Fallopian tubes (or uterine tubes), the uterus, the vagina and the vulva.

      7. During which period of life does the formation of gametes begin in women?

      The meiosis that forms female gametes begins in the cells of ovarian follicles before birth. After the beginning of puberty, under hormonal stimuli, during each menstrual cycle, one of the cells is released on the surface of the ovary and meiosis resumes. However, the meiotic process is only concluded if fertilization occurs.

      8. What organ releases the female gamete under formation? How is this release triggered? What organ collects the released gametes?

      The organ that releases the female gamete is the ovary, the female gonad. The releasing of the oocyte is a response to hormonal stimuli. The immature egg cell (still an oocyte) falls into the abdominal cavity and is picked up by the Fallopian tube (uterine tube, or oviduct), a tubular structure that connects the ovary with the uterus.

      9. What are the anatomical relationships between the organs of the female reproductive system, from the external vulva to the ovaries?

      The external female genitalia is called the vulva. The vulva is the external opening of the vaginal canal, or vagina. The vagina is the copulation organ of females and its posterior extremity communicates with the uterus through the uterine cervix. The uterus is divided into two portions: the cervix and the uterine cavity. The lateral walls of the uterine fundus communicate with the Fallopian tubes. The other extremity of each Fallopian tube ends in fimbria, forming fringes in the abdominal cavity. Between the uterine tube and the ovary is intra-abdominal space.

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      Just select (or double-click) a question to share. Challenge your Facebook and Twitter friends.

      The Menstrual Cycle

      10. What is the menstrual cycle?

      The menstrual cycle is the periodic succession of interactions between the hormones and organs of the female reproductive system that, after the beginning of puberty, regulates the release of female gametes and prepares the uterus for fertilization and pregnancy.

      11. What endocrine glands are involved in the menstrual cycle? What hormones are in involved?

      The endocrine glands that secrete hormones involved in the menstrual cycle are the hypophysis (the pituitary gland) and the ovaries.

      The hormones from the adenohypophysis are FSH (follicle-stimulating hormone) and LH (luteinizing hormone) and the hormones from the ovaries are estrogen and progesterone.

      12. What event marks the beginning of the menstrual cycle? What is the blood concentration of FSH, LH, estrogen and progesterone during this phase of the cycle?

      By convention, the menstrual cycle begins on the day that menses begins. (Menses is the endometrial hemorrhage excreted through the vaginal canal.) During these days, the hormones FSH, LH, estrogen and progesterone have low concentration.

      13. After menses, what hormone influences the maturation of ovarian follicles?

      The maturation of ovarian follicles after menses is stimulated by the action of FSH (follicle-stimulating hormone).

      14. What hormone is secreted by the growing ovarian follicles? What is the action of that hormone on the uterus?

      The follicles growing after menses secrete estrogen. These hormones act on the uterus, stimulating the thickening of the endometrium (the internal mucosa of the uterus).

      15. What is the relationship between estrogen level and the LH level in the menstrual cycle? What is the function of LH in the menstrual cycle and when does its blood concentration reach a peak?

      The increase in the blood concentration of estrogen with the growing of the ovarian follicle causes the hypophysis to secrete LH. During this phase, LH acts along with FSH to promote the maturation of the follicle, which on the 14th day, ruptures, releasing the female gamete (ovulation). After the release of the ovum, LH stimulates the formation of the corpus luteum, a structure made from the remaining follicular mass. LH concentration is at its maximum on the 14th day of the cycle.

      16. What hormones promote the release of the female gamete from the follicle and on which day of the menstrual cycle does this phenomenon happen? What is this event called?

      The hormones that promote the release of the ovum from the follicle are FSH and LH, hormones found in maximum blood concentration around the 14th day of the cycle. The release of the female gamete from the ovary is called ovulation. Ovulation happens at (around) on 14th day of the menstrual cycle.

      17. How does the female gamete move from the ovary to the uterus?

      The female gamete released by the ovary falls into the surrounding abdominal cavity and is collected by the Fallopian tube. The internal epithelium of the uterine tubes has ciliated cells that move the ovum or the fertilized egg cell towards the uterus.

      18. How long after ovulation must fertilization occur to be effective?

      If fertilization does not occur approximately 24 hours after ovulation, the released ovum often dies.

      19. Into what structure is the follicle transformed after ovulation? What is the importance of that structure in the menstrual cycle?

      The follicle that released the ovum undergoes the action of LH and is transformed into the corpus luteum. The corpus luteum is very important because it secretes estrogen and progesterone.

      These hormones prepare the uterine mucosa, also known as endometrium, for nidation (the implantation of the zygote in the uterine wall) and embryonic development, since they stimulate the thickening of the mucous tissue, increase its vascularity and cause the appearance of uterine glycogen-producing glands.

      20. What is the importance of uterine glycogen-producing glands?

      Uterine glands produce glycogen that can be broken down into glucose to nourish the embryo before the complete development of the placenta.

      21. How does negative feedback between the hypophysis and corpus luteum  work? What is the name given to the atrophied corpus luteum after this feedback process?

      After ovulation, the estrogen and progesterone secretions from the corpus luteum inhibit hypophyseal FSH and LH secretions (this happens through the inhibition of GnRH, gonadotropin-releasing hormone, a hypothalamic hormone). The blood concentration of these adenohypophyseal hormones falls to basal levels once again. As LH lowers, the corpus luteum (luteum means “yellow”) becomes atrophic and turns into the corpus albicans (“white”). With the regression of the corpus luteum, the production of estrogen and progesterone ceases.

      22. In hormonal terms, why does menses occur?

      Menses is the monthly਎ndometrial desquamation that occurs as the estrogen and progesterone levels fall after the regression of the corpus luteum. This is because these hormones, mainly progesterone, can no longer support and maintain the thickening of the endometrium.

      23. What is the explanation for the bleeding that accompanies menses?

      The hemorrhage that accompanies menses occurs because the endometrium is a highly vascularized tissue. The rupture of the blood vessels of the uterine mucosa during menstrual desquamation causes the bleeding.

      24. What are the phases of the menstrual cycle?

      The menstrual cycle is divided into two main phases: the follicular (or menstrual) phase and the luteal (or secretory) phase.

      The menstrual phase begins on the first day of menses and lasts until ovulation (around the 14th day). The luteal phase begins after ovulation and ends when menses begins (around the 28th day).

      25. Including the main events and hormonal changes, how can the menstrual cycle be described?

      The cycle can be described like an analog clock on which 12 o’clock is the beginning and the end of the menstrual cycle and 6 o’clock corresponds to the 14th day of the cycle.

      At 12 o’clock, menses and therefore the menstrual cycle begin and FSH blood levels begins to increase. Around 2 o’clock, the follicles maturing under the effect of FSH are already secreting estrogen and the endometrium is thickening. Around 3 o’clock, estrogen is intensely stimulating the increase of LH blood levels. At 6 o’clock (the 14th day), LH is at its maximum concentration and FSH is also at high levels to promote ovulation. LH then stimulates the formation of the corpus luteum. Around 7 o’clock, the corpus luteum is already secreting a large amount of estrogen and progesterone and the endometrium thickens even more levels of FSH and LH decrease with the increasing of the ovarian hormones. Around 11 o’clock, the reduced LH and FSH levels make the corpus luteum turn into the corpus albicans the production of estrogen and progesterone ceases and the endometrium regresses. At 12 o’clock again (the 28th day), the endometrium desquamates and a new menstrual cycle begins.

      Fertilization

      26. In general, during what phase of the menstrual cycle can copulation lead to fertilization?

      Although this is not a rule, to be effective, fertilization must occur within 24 hours after ovulation (which occurs around the 14th day of the menstrual cycle). Fertilization may occur even if copulation took place up to 3 days before ovulation, since male gametes remain viable for about 72 hours within the female reproductive system.

      However, the fertile period of the women is considered to be the period from 7 days before ovulation to 7 days after ovulation.

      27. In what part of the female reproductive system does fertilization occur?

      Fertilization generally occurs in the Fallopian tubes, but it can also take place in the uterus. There are cases when fertilization may occur even before the ovum enters the uterine tube, which may lead to a severe medical condition known as abdominal pregnancy.

      28. How does the sexual arousal mechanism in women facilitate fertilization?

      During sexual arousal in women, the vagina secretes substances to neutralize its acidity, thus allowing the survival of sperm cells within it. During the female fertile period, hormones make the mucus that covers the internal surface of the uterus less viscous to help the passage of sperm cells into the uterine tubes. During copulation, the uterine cervix advances inside the vagina to facilitate the entrance of male gametes through the cervical canal.

      Nidation and Pregnancy

      29. What is nidation? During which phase of the menstrual cycle does nidation occur?

      Nidation is the implantation of the embryo into the uterus. Nidation occurs around the 7th day after fecundation, that is, 7 to 8 days after fertilization (obviously, it occurs only if fecundation also occurs). Since it occurs in the luteal phase ,the progesterone level is high and the endometrium is in its best condition to receive the embryo.

      30. What is tubal pregnancy?

      Often fertilization takes place in the Fallopian tubes. Generally, the newly formed zygote is moved to the uterus, where nidation and embryonic development occur. However, in some cases, the zygote cannot descend into the uterus and the embryo implants itself in the uterine tube tissue, which is the characteristic of tubal pregnancy. Tubal pregnancy is a severe clinical condition since the tube often ruptures during gestation, causing a hemorrhage and even the death of the woman. The most common treatment for tubal pregnancy is surgery.

      31. How do hormonal tests to detect pregnancy work?

      Laboratory tests to detect pregnancy commonly test for human chorionic gonadotropin (HCG) concentration in blood or urine samples. If the level of this hormone is abnormally high, pregnancy is likely.

      32. Does the hypophysis-ovaries endocrine axis work in the same way during pregnancy as in non-pregnant women? If pregnancy does not occur how does another menstrual cycle begin?

      The functioning of the hypophysis is altered during pregnancy. Since estrogen and progesterone levels remain elevated during the gestational period, the production of GnRH (gonadotropin-releasing hormone) from the hypothalamus is inhibited. The lack of GnRH therefore inhibits the secretion of FSH and LH by the hypophysis and a new menstrual cycle does not begin.

      If pregnancy does not occur, the lowering of estrogen and progesterone levels stimulates the production of GnRH by the hypothalamus. This hormone then hastens the adenohypophyseal secretion of FHS and LH, which in turn stimulate the maturation of follicles and the beginning of a new menstrual cycle.

      33. What is the endocrine function of the placenta?

      The placenta, in addition to being the organ through which the exchange of substances between the mother and the fetus is carried out, also has the function of secreting estrogen and progesterone to maintain a high level of these hormones during pregnancy. (The placenta still secretes other hormones such as human placental lactogen, which acts in a way similar to that of the hypophyseal hormones that regulate reproduction, and HCG, human chorionic gonadotropin.)

      Reproductive Planning Methods

      34. How do contraceptive pills generally work?

      Contraceptive pills generally contain the hormones estrogen and progesterone. If taken daily from the 4th day after menses, the abnormal elevation of these hormones acts upon the hypophysis-hypothalamus endocrine axis, inhibiting FSH and LH secretions. Since these hormones do not reach their normal high levels during the menstrual cycle, ovulation does not occur.

      (Treatment with contraceptive pills must be started under medical supervision.)

      35. What are the common contraindications of contraceptive pills?

      There are medical reports associating the use of contraceptive pills with vomiting, nausea, vertigo, headaches, hypertension and other pathological conditions. Some research has attempted to relate the medical ingestion of estrogen and progesterone with an increased propensity for cardiovascular diseases (such as heart attacks, strokes and thrombosis) and malignant neoplasms (cancers). Doctors must always be askedꂫout the risks and benefits of the contraceptive pill prior to use.

      36. What are the most common methods of male and female surgical sterilization?

      Vasectomy is the most common method of surgical sterilization in men. In vasectomy, the vas deferens inside the scrotum are sectioned and closed at a section, forbidding the sperm cells from entering the ejaculatory duct but still allowing the release of seminal fluid during ejaculation.

      The surgical sterilization of women is often done by bilateral tubal ligation. With tubal ligation, the ovum does not enter the uterus and, as a result, sperm cells cannot reach it.

      37. How does a contraceptive diaphragm work? What are the limitations of this contraceptive method?

      A contraceptive diaphragm is a device made of latex or plastic that, when placed on the vaginal fundus, covers the uterine cervix, preventing the passage of sperm cells through the cervical canal. To be more effective, the diaphragm needs to be used with spermicide. However, this method does not prevent sexually transmitted infections (STIs).

      38. Why is the use of condoms not just a contraceptive method but also a health protection behavior?

      The use of condoms, in addition to being an efficient contraceptive method, also helps the prevention of diseases caused by sexually transmitted agents (STIs), such as syphilis, gonorrhea, HPV (the human papilloma virus, which may lead to genital cancers) infection, HIV infection, etc.

      39. What is the normal duration of the menstrual cycle? How does the calendar contraceptive method work?

      The normal duration of the menstrual cycle is 28 days, but it can vary among different women or different cycles in the same woman.

      In the calendar contraceptive method, the date n-14 (n minus 14) is taken, considering n the number of days of the normal menstrual cycle of the woman (generally n=28). The safety margin +3 or –3 refers to the days around n-14 during which intercourse should be avoided to prevent pregnancy. (This method is not completely free of failures. A doctor must always be consulted before relying on any contraceptive method.)

      40. How is the ovulation date estimated via the measurement of a woman's body temperature?

      One method to estimate the exact ovulation date is daily measurement of body temperature always done under same conditions. On the date of ovulation, body temperature often increases about 0.5 degrees centigrade.

      41. What is the contraceptive mechanism of an IUD?

      An IUD (intrauterine device) is a piece of plastic coated with copper that is inserted into the uterus by a doctor. Copper is then gradually released (an IUD can last from 5 to 10 years) and since it has a spermicidal effect, sperm cells are destroyed before fertilization. in addition to this mechanism, the movement of the IUD inside the uterus causes slight endometrial inflammation, which helps to prevent nidation.

      Reproduction in Other Animals

      (See zoology subjects for a comprehensive review.)

      42. Generally, how does a male animal realize that the female is receptive to copulation?

      In most vertebrate species with internal fertilization, females have reproductive cycles with fertile periods. During this period, the female secretes pheromones (odoriferous substances that attract the male of the species) from the skin and mucosae. The presence of the male individual and his pheromones also stimulates the release of pheromones by the female. (Many animals also use pheromones to mark their territories and for signal transmission between individuals about the location of dangers and food.)

      43. What is parthenogenesis?

      Parthenogenesis is the reproduction or formation of a new individual from the egg cell without fertilization by the male gamete. Depending on the species, individuals born via parthenogenesis may be male or female, or of any sex.

      In bees, the drone (the single male bee) is haploid and born via parthenogenesis while the females (queen and workers) are diploid.

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