Alicia Latham, MD, MS, on Using ctDNA to Detect Endometrial Cancer

The study is important because for the longest time women's only option if they had an increased risk for gynecologic cancer because of hereditary predisposition like BRCA or Lynch syndrome or some of these other hereditary susceptibilities was they were recommended to and still are recommended to undergo risk-reducing hysterectomy. So it's a major quality of life issue. Right now, the only possible screening option for women with Lynch syndrome for uterine cancer is endometrial biopsy. The NCCN recommends that women can consider this. But unfortunately we know that they don't really work very well in terms of detecting uterine cancer as a pure screening test. And they're also very invasive and uncomfortable and cause a lot of pain. The idea behind the study is to try to develop a new way to screen for uterine cancer by using cell-free DNA, which we all know as more of a blood-based test, but in actuality, you can extract cell-free DNA from multiple body fluids. And so what the study has done is we looked at 16 patients with known uterine cancer that were going in for surgical operation, collected both a blood test and a cervical sample and extracted cell-free DNA from both body fluids. And then we compared tumor mutations, we sequenced them, compared tumor mutations in the actual tumor cancers to those that were found in the blood and those that were found in the cervical mucus sampling. And we found in what we're calling Pap ctDNA that over 90% of our mutations were detected in these early-stage cancers. In fact, it was 93% in FIGO grade 1 uterine cancer. In comparison, the blood test only detected about one-quarter of these. So we have a lot of work to do. This is a small feasibility study. We're in the process of expanding this more. I'm working on looking at other tumor types such as ovarian, which I've already been asked about, and hopefully we’ll be able to have an option for women for screening for these cancers for which they have not had effective screening.