Summary

Key Points

• Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception.
• Hydatidiform mole (HM) is the most common type of GTD.
• Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant.
  • Invasive moles
  • Choriocarcinomas
  • Placental-site trophoblastic tumors
  • Epithelioid trophoblastic tumors
• Age and a previous molar pregnancy affect the risk of GTD.
• Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal.
• Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease.
• Certain factors affect prognosis (chance of recovery) and treatment options.

Gestational trophoblastic disease (GTD) is a group of rare diseases in which abnormal trophoblast cells grow inside the uterus after conception.

In gestational trophoblastic disease (GTD), a tumor develops inside the uterus from tissue that forms after conception (the joining of sperm and egg). This tissue is made of trophoblast cells and normally surrounds the fertilized egg in the uterus. Trophoblast cells help connect the fertilized egg to the wall of the uterus and form part of the placenta (the organ that passes nutrients from the mother to the fetus).

Sometimes there is a problem with the fertilized egg and trophoblast cells. Instead of a healthy fetus developing, a tumor forms. Until there are signs or symptoms of the tumor, the pregnancy will seem like a normal pregnancy.

Most GTD is benign (not cancer) and does not spread, but some types become malignant (cancer) and spread to nearby tissues or distant parts of the body.

Gestational trophoblastic disease (GTD) is a general term that includes different types of disease:

• Hydatidiform Moles (HM)
  • Complete HM.
  • Partial HM.
• Gestational Trophoblastic Neoplasia (GTN)
  • Invasive moles.
  • Choriocarcinomas.
  • Placental-site trophoblastic tumors (PSTT; very rare).
  • Epithelioid trophoblastic tumors (ETT; even more rare).

Hydatidiform mole (HM) is the most common type of GTD.

HMs are slow-growing tumors that look like sacs of fluid. An HM is also called a molar pregnancy. The cause of hydatidiform moles is not known.

HMs may be complete or partial:

• A complete HM forms when sperm fertilizes an egg that does not contain the mother’s DNA. The egg has DNA from the father and the cells that were meant to become the placenta are abnormal.
• A partial HM forms when sperm fertilizes a normal egg and there are two sets of DNA from the father in the fertilized egg. Only part of the fetus forms and the cells that were meant to become the placenta are abnormal.

Most hydatidiform moles are benign, but they sometimes become cancer. Having one or more of the following risk factors increases the risk that a hydatidiform mole will become cancer:

• A pregnancy before 20 or after 35 years of age.
• A very high level of beta human chorionic gonadotropin (?-hCG), a hormone made by the body during pregnancy.
• A large tumor in the uterus.
• An ovarian cyst larger than 6 centimeters.
• High blood pressure during pregnancy.
• An overactive thyroid gland (extra thyroid hormone is made).
• Severe nausea and vomiting during pregnancy.
• Trophoblastic cells in the blood, which may block small blood vessels.
• Serious blood clotting problems caused by the HM.

Gestational trophoblastic neoplasia (GTN) is a type of gestational trophoblastic disease (GTD) that is almost always malignant.

Gestational trophoblastic neoplasia (GTN) includes the following:

Invasive moles

Invasive moles are made up of trophoblast cells that grow into the muscle layer of the uterus. Invasive moles are more likely to grow and spread than a hydatidiform mole. Rarely, a complete or partial HM may become an invasive mole. Sometimes an invasive mole will disappear without treatment.

Choriocarcinomas

A choriocarcinoma is a malignant tumor that forms from trophoblast cells and spreads to the muscle layer of the uterus and nearby blood vessels. It may also spread to other parts of the body, such as the brain, lungs, liver, kidney, spleen, intestines, pelvis, or vagina. A choriocarcinoma is more likely to form in women who have had any of the following:

• Molar pregnancy, especially with a complete hydatidiform mole.
• Normal pregnancy.
• Tubal pregnancy (the fertilized egg implants in the fallopian tube rather than the uterus).
• Miscarriage.

Placental-site trophoblastic tumors

A placental-site trophoblastic tumor (PSTT) is a rare type of gestational trophoblastic neoplasia that forms where the placenta attaches to the uterus. The tumor forms from trophoblast cells and spreads into the muscle of the uterus and into blood vessels. It may also spread to the lungs, pelvis, or lymph nodes. A PSTT grows very slowly and signs or symptoms may appear months or years after a normal pregnancy.

Epithelioid trophoblastic tumors

An epithelioid trophoblastic tumor (ETT) is a very rare type of gestational trophoblastic neoplasia that may be benign or malignant. When the tumor is malignant, it may spread to the lungs.

Risk Factors

Age and a previous molar pregnancy affect the risk of GTD.

Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn’t mean that you will not get cancer. Talk to your doctor if you think you may be at risk. Risk factors for GTD include the following:

• Being pregnant when you are younger than 20 or older than 35 years of age.
• Having a personal history of hydatidiform mole.

Screening and Detection

Tests that examine the uterus are used to detect (find) and diagnose gestational trophoblastic disease.

The following tests and procedures may be used:

• Physical exam and history: An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken.
• Pelvic exam: An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas.
• Ultrasound exam of the pelvis: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs in the pelvis and make echoes. The echoes form a picture of body tissues called a sonogram. Sometimes a transvaginal ultrasound (TVUS) will be done. For TVUS, an ultrasound transducer (probe) is inserted into the vagina to make the sonogram.
• Blood chemistry studies: A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. Blood is also tested to check the liver, kidney, and bone marrow.
• Serum tumor marker test: A procedure in which a sample of blood is checked to measure the amounts of certain substances made by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the body. These are called tumor markers. For GTD, the blood is checked for the level of beta human chorionic gonadotropin (?-hCG), a hormone that is made by the body during pregnancy. ?-hCG in the blood of a woman who is not pregnant may be a sign of GTD.
• Urinalysis: A test to check the color of urine and its contents, such as sugar, protein, blood, bacteria, and the level of ?-hCG.

Signs and Symptoms

Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal.

These and other signs and symptoms may be caused by gestational trophoblastic disease or by other conditions. Check with your doctor if you have any of the following:

• Vaginal bleeding not related to menstruation.
• A uterus that is larger than expected during pregnancy.
• Pain or pressure in the pelvis.
• Severe nausea and vomiting during pregnancy.
• High blood pressure with headache and swelling of feet and hands early in the pregnancy.
• Vaginal bleeding that continues for longer than normal after delivery.
• Fatigue, shortness of breath, dizziness, and a fast or irregular heartbeat caused by anemia.

GTD sometimes causes an overactive thyroid. Signs and symptoms of an overactive thyroid include the following:

• Fast or irregular heartbeat.
• Shakiness.
• Sweating.
• Frequent bowel movements.
• Trouble sleeping.
• Feeling anxious or irritable.
• Weight loss.

Treatment Options

There are different types of treatment for patients with gestational trophoblastic disease.

Different types of treatment are available for patients with gestational trophoblastic disease. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. Before starting treatment, patients may want to think about taking part in a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment.

Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team.

Three types of standard treatment are used:

Surgery

The doctor may remove the cancer using one of the following operations:

Dilatation and curettage (D&C) with suction evacuation: A surgical procedure to remove abnormal tissue and parts of the inner lining of the uterus. The cervix is dilated and the material inside the uterus is removed with a small vacuum-like device. The walls of the uterus are then gently scraped with a curette (spoon-shaped instrument) to remove any material that may remain in the uterus. This procedure may be used for molar pregnancies.

Hysterectomy: Surgery to remove the uterus, and sometimes the cervix. If the uterus and cervix are taken out through the vagina, the operation is called a vaginal hysterectomy. If the uterus and cervix are taken out through a large incision (cut) in the abdomen, the operation is called a total abdominal hysterectomy. If the uterus and cervix are taken out through a small incision (cut) in the abdomen using a laparoscope, the operation is called a total laparoscopic hysterectomy.

Chemotherapy

Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated, or whether the tumor is low-risk or high-risk.

Combination chemotherapy is treatment using more than one anticancer drug.

Even if the doctor removes all the cancer that can be seen at the time of the surgery, some patients may be given chemotherapy after surgery to kill any tumor cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy.

See Drugs Approved for Gestational Trophoblastic Disease for more information.

Radiation therapy

Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy. External radiation therapy uses a machine outside the body to send radiation toward the cancer. Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of cancer being treated.

New types of treatment are being tested in clinical trials.

Information about ongoing clinical trials is available from the NCI website.

Patients may want to think about taking part in a clinical trial.

For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.

Many of today’s standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.

Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

Patients can enter clinical trials before, during, or after starting their cancer treatment.

Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.

Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI’s listing of clinical trials.

Follow-up tests may be needed.

Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.

Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.

Blood levels of beta human chorionic gonadotropin (?-hCG) will be checked for up to 6 months after treatment has ended. This is because a ?-hCG level that is higher than normal may mean that the tumor has not responded to treatment or it has become cancer.