Learn The BasicsThe evaluation for endometrial cancer (EC) involves several steps.
An initial assessment may include a physical exam or imaging techniques such as transvaginal ultrasound or hysteroscopy to identify abnormalities. However, a definitive diagnosis of endometrial cancer requires histopathologic confirmation, typically obtained through an endometrial biopsy or dilation and curettage.
In select cases, genetic testing may be conducted to assess for inherited mutations linked to hereditary cancer syndromes.
Physical exam
During a physical exam, the doctor will manually check the reproductive organs such as the uterus, vagina and ovaries as well as the rectum to look for signs of cancer.
Imaging tests
One of the main imaging tests used to assess for EC is a transvaginal ultrasound (TVUS). Here, the doctor inserts a device that resembles a wand inside the vagina. A video image of the uterus is then produced using sound waves. The aim is to assess the texture and thickness of the lining of the uterus and check for any signs of cancer.
Ultrasounds can also be done externally. Here, a transducer is moved on the belly to create an image of the uterus, ovaries and fallopian tubes.
Other imaging tests that can be used to assess EC include magnetic resonance imaging (MRI) and computed tomography (CT).
In some cases, a hysteroscopy is used to examine the uterine lining. Here, the doctor inserts a thin, flexible tube that contains a camera and light at the tip through the vagina and into the uterus.
Imaging studies can also be conducted to determine the stage of EC. These may include a CT scan, MRI, X-ray and positron emission tomography (PET).
Endometrial biopsy
In an endometrial biopsy, a sample of the endometrium or lining of the uterus is collected to be analyzed in the laboratory to see if it is cancerous. Hysteroscopy can be used to obtain an endometrial biopsy sample.
Dilation and curettage
In case the endometrial biopsy does not provide enough tissue to reach a diagnosis, a technique called a dilation and curettage (also known as a D&C) may be performed.
Here, the doctor uses instruments to dilate or enlarge the cervical canal. Then, using another instrument, they acquire tissue from inside the uterus.
This tissue is then examined under the microscope for the presence of cancer cells.
Genetic testing
In some cases, EC may be associated with an inherited genetic mutation. Around 10% of patients diagnosed with EC test positive for inherited genetic mutations associated with EC.
A genetic test can be performed to identify these mutations. Having a mutation associated with EC may also increase the risk of developing other types of cancer.
The most common familial cancer syndrome is Lynch syndrome. It is characterized by a genetic mutation to EPCAM, MLH1, MSH2, MSH6 and PMS2 genes. These individuals are at risk for developing other types of cancers.
Other genetic mutations associated with inherited forms of EC are those to PTEN, which causes PTEN Hamartoma tumor syndrome, STK11, which causes Peutz-Jeghers syndrome and BRCA1 and BRCA2 mutations, which are also associated with hereditary breast and ovarian cancer syndrome.
Having a genetic test following a diagnosis of EC can guide treatment decisions, since people with inherited mutations may benefit from targeted therapies or immunotherapy to treat their cancer.
Finally, genetic testing can benefit relatives of people who have been diagnosed with EC who may have an increased risk of developing EC or other cancers. This way, the relatives can be tested and diagnosed earlier or take preventative measures against cancer.