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New pilot study shows promising results for early detection of ovarian and endometrial cancers

January 28, 2013

There have been some exciting developments for effective ovarian and endometrial cancer screening tests:

In a pilot study, the “PapGene” test, which relies on genomic sequencing of cancer-specific mutations, accurately detected 100 percent (24 out of 24) endometrial cancers and 41 percent (nine out of 22) ovarian cancers. Researchers say that larger studies are need before clinical use can begin. Read full article here.
I think I speak for most gynecologic oncologists in saying that we have all been anxiously awaiting the development of such a test. In the United States, ovarian cancer is the number one cause of cancer-related deaths among all gynecologic cancers followed by endometrial cancer. Currently, women with ovarian cancer are mostly diagnosed in late stages when the cancer has already spread outside of the ovaries throughout the entire abdomen. Although surgery and chemotherapy allow these women to live longer than they would have without treatment, for most the treatment is not curative. Women diagnosed at these late stages eventually succumb to their cancer. Therefore, early detection is imperative.

There is currently no good screening test for either endometrial or ovarian cancer.

The news article above is expected to draw the attention of many women especially those with a familial risk of ovarian cancer and those sixty and older (when ovarian cancer is most commonly diagnosed). Although the research study certainly had promising results, the general public should keep in mind a few things:

  1. This was a pilot study, therefore other larger studies must be conducted before atest like this will make it to the clinic setting. So far it is only being done in research studies.
  2. Scientists are still working on refining this test through other research studies to increase the sensitivity of the test as a cancer screening tool.
  3. For now the Pap smear is meant to be a screening tool to detect pre- and early-stage cervical cancer specifically.

What makes a test a good cancer screening test?

First, it must accurately predict those who truly have the disease. Secondly, it must have very low false positive rates—otherwise many women would go through unnecessary tests and even surgery when they don’t actually have the disease. Third, the test must be cost-effective and accessible to the majority of women worldwide. Also, the test should be reproducible—that is, many labs should be able to run this test and get the same consistent results. Lastly, the test must be able to detect the disease in very early stages (before the woman has any symptoms). It is not helpful to the patient if the test is not capable of detecting the disease process at a stage early enough to improve survival outcomes.

Kinde and colleagues published in Science Translational Medicine the results of their pilot study on the PapGene assay. This assay uses the liquid containing cells obtained from a Pap smear to run a test for abnormal or mutated genes. This PapGene assay specifically tests for gene mutations that commonly occur in endometrial and certain ovarian cancers. The PapGene assay tests for about 12 of these gene mutations. In their study Kinde and colleagues were able to successfully identify 100 percent of endometrial cancers and about 40 percent of ovarian cancers with this assay. This is certainly very exciting given the current lack of good screening tools for both endometrial and ovarian cancer.

As scientists like Kinde and colleagues continue to work on refining such tests as well as finding ways to cut down on their cost, I hope that in the near future I will be able to offer a good screening test for ovarian and endometrial cancer to my patients.

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