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How Is Ovarian Cancer Diagnosed?

Medically reviewed by Howard Goodman, M.D.
Written by Emily Wagner, M.S.
Updated on April 5, 2021

Ovarian cancer and other gynecologic cancers are usually discovered during a pelvic exam. If you have symptoms that indicate ovarian cancer, your doctor will recommend a series of imaging, blood, and genetic tests to determine the cause.

Ovarian cancer is the result of uncontrolled cell growth in the ovaries. The three main types are epithelial, germ cell, and stromal cell ovarian cancer. Overall, these fall under the umbrella of gynecologic cancers; other types include fallopian tube cancer and primary peritoneal cancer.

Tests for Diagnosing Ovarian Cancer

Currently, there are no reliable screening tests available to detect ovarian cancer. However, there are a number of tests which together can diagnose ovarian cancer. These tests are commonly available at your gynecologist’s or doctor’s office. Women who are at a high risk of developing ovarian cancer should be screened regularly.

Physical and Pelvic Exam

Whether you are at a routine medical appointment or you’ve made an appointment due to concerning symptoms, your doctor will perform a routine physical exam to check your general health and to look for any signs of disease or anything unusual.

A pelvic exam is a comprehensive exam of the vagina, cervix, uterus, ovaries, fallopian tubes, and rectum. The doctor will insert a speculum into the vagina to look at the vagina and cervix. They will feel the shape, size, and position of the uterus and ovaries. They will also look for any abnormal swelling or lumps. A Pap test may be taken during this time, but it is only used to diagnose cervical cancer, not ovarian cancer.

Imaging Tests

There are a number of imaging techniques used to find ovarian cancer. Once the cancer is detected, your doctor will determine the size of the tumors and if the cancer has spread anywhere in the body. Understanding the spread of cancer helps determine the stages of ovarian cancer.

Ultrasound imaging is the most common technique used to detect ovarian cancer. An ultrasound transducer is placed on the abdomen above the ovaries or into the vagina, and sound waves bounce off the ovaries to form a picture.

Computed tomography (CT) or positron emission tomography (PET) scans may be performed to confirm an ovarian cancer diagnosis. This type of imaging gives the doctor a detailed look inside the body from different angles. These scans can image large tumors and enlarged lymph nodes and detect signs of metastasis (spread of the cancer).

Magnetic resonance imaging (MRI) scans can also be used to create detailed images of the body. MRI scans are not used as often to find and diagnose ovarian cancer. However, they are especially helpful in examining the spinal cord and brain to detect signs of metastasis.

Laparoscopy is a technique that uses thin instruments that are inserted in the abdomen through a small incision. The instruments then send images that can be viewed on a video monitor. This allows doctors to view the ovaries and other organs to develop a surgical or treatment plan.

Biopsy

The only way to officially diagnose cancer is through a biopsy. This procedure removes a piece of a suspected tumor, which is sent to a pathologist who examines the cells under a microscope. Biopsies are usually done after a tumor has been removed during surgery; however, there are other methods that can be used.

In rare cases, a biopsy can be taken during a laparoscopic procedure, where doctors use small instruments attached to the laparoscope to remove potentially cancerous tissue. An ovarian needle aspiration can also be performed; this process involves placing a needle directly into the tumor through the abdomen. This method is used only in cases where the person cannot have surgical procedures, or if there is concern that a biopsy could result in the cancer spreading.

Blood Tests

One common blood test used in diagnosing ovarian cancer is the detection of cancer antigen 125 (CA-125). A cancer antigen is a protein only found on cancerous cells. Women with ovarian cancer often have elevated levels of this protein; however, some women may never have elevated CA-125 levels. In addition to ovarian cancer, high CA-125 levels can indicate:

  • Pelvic inflammatory disease
  • Uterine fibroids
  • Liver disease
  • Pregnancy
  • Endometriosis
  • Menstruation

Women who are at a high risk of developing ovarian cancer may have a CA-125 blood test done periodically. Risk factors for developing ovarian cancer include:

  • Family history of ovarian cancer
  • Previous cancer of the breast, colon, or uterus
  • Inheritance of the BRCA1 and BRCA2 genes or other gene mutations associated with ovarian cancer

You may also need additional blood testing depending on which subtype of ovarian cancer you may have. Some types of ovarian cancer cells make specific compounds and release them into the blood. By measuring these compounds, your doctor may be able to tell which subtype you have. For example, germ cell tumors sometimes produce certain proteins, including:

  • Alpha-fetoprotein (AFP)
  • Lactate dehydrogenase (LDH)
  • Human chorionic gonadotropin (HCG)

If your doctor detects these proteins in your blood, it can help confirm that you have a germ cell tumor. Additionally, doctors may continue to test for these proteins over the course of your treatment to see whether a tumor is shrinking or coming back.

Stromal tumors — another subtype of ovarian cancer — produce the hormones inhibin, testosterone, and estrogen. Your doctor may test for these as well. Elevated levels of these hormones may help your doctor make a stromal tumor diagnosis.

Genetic Testing

Cancer is a genetic disease that results from gene mutations in cells. Identifying these mutations can help doctors predict the course of the disease and decide which treatments are most likely to be effective. Genetic testing is done via a blood sample or saliva sample.

BRCA1 and BRCA2 Mutations

BRCA1 and BRCA2 mutations are often linked to breast cancer, but they are also found in ovarian cancer. If you have a BRCA1 or BRCA2 mutation, you may respond well to a class of drugs known as poly (ADP-ribose) polymerase inhibitors — or PARP inhibitors — which are used to treat ovarian cancer.

NRTK Mutations

Another mutation that can occur in ovarian cancer is in the NRTK gene. Fortunately, there are two targeted drug therapies available to treat cancers with NRTK mutations: Rozlytrek (Entrectinib) and Vitrakvi (Larotrectinib). These two drugs are approved by the U.S. Food and Drug Administration (FDA) and can be prescribed by a gynecologic oncologist.

Microsatellite Instability

Women who have been diagnosed with endometrioid, mucinous, or clear cell subtypes of ovarian cancer might have testing done to identify gene changes known as microsatellite instability. Genetic testing may also be performed to look for changes in mismatch repair genes (MLH1, MLH2, MSH6, PMS2).

Changes in microsatellite instability or mismatch repair genes can indicate a condition known as Lynch syndrome (hereditary nonpolyposis colorectal cancer). People with Lynch syndrome will probably have the same ovarian cancer outlook and treatment plans as those without these gene changes. However, they are more likely to develop other cancers, such as colorectal, uterine, stomach, and liver cancer.

Other genetic mutations found in ovarian cancer include:

  • BRIP1
  • ATM
  • RAD51C and RAD51D

Genetic testing is important for better understanding a person’s diagnosis, treatment, and outlook. However, genetic testing can also be used to predict someone’s risk of ovarian cancer before they receive a diagnosis. In particular, people with mutations in the BRCA genes are much more likely to develop ovarian cancer. If a family member has had ovarian cancer linked to one of these gene changes, or if you have other risk factors for ovarian cancer, your doctor may refer you to a genetic counselor for testing. If you discover you have a gene mutation, your doctor or a genetic counselor can help you determine proactive steps to protect your health and help you share the information with family members who may also be at risk.

Ovarian Cancer Condition Guide

Updated on April 5, 2021
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Howard Goodman, M.D. is certified by the American Board of Obstetrics and Gynecology and specializes in the surgical management of women with gynecologic cancer. Review provided by VeriMed Healthcare Network.. Learn more about him here.
Emily Wagner, M.S. holds a Master of Science in biomedical sciences with a focus in pharmacology. She is passionate about immunology, cancer biology, and molecular biology. Learn more about her here.

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