Dr. Bukavina on germline testing recommendations in urothelial carcinoma


"When we think about germline mutations, I think the number one thing that comes through for many urologists as well as oncologists is Lynch syndrome," says Laura Bukavina, MD, MPH, MSc.

In this video, Laura Bukavina, MD, MPH, MSc, highlights the NCCN recommendations surrounding germline testing in urothelial carcinoma, which were discussed during the session, “Urothelial Carcinoma Guideline Updates,” at the 2024 ASCO Genitourinary Cancers Symposium in San Francisco, California. Bukavina is a urologic oncologist at University Hospitals Cleveland Medical Center and an assistant professor of urologic oncology at Case Western Reserve University in Cleveland, Ohio.

Video Transcript:

[With] germline testing right now, the recommendation is [for] patients with urothelial carcinoma, in addition to colorectal cancer, endometrial cancer, as well as strong family history, to undergo germline testing if they present with diagnosis less than 45 years of age. That is based on a couple of studies that were published in germline testing of urothelial cancer, as well as some of the work that has been done previously regarding mutations in MSH1 as well as other mutations in urothelial cancer.

When we think about germline mutations, I think the number one thing that comes through for many urologists as well as oncologists is Lynch syndrome. The recommendations are based on Lynch syndrome and based on the presentation of disease. We know that patients with Lynch syndrome typically have presentation of endometrial cancer as well as colorectal cancer much earlier than their actual diagnosis of urothelial cancer. However, if you have patients such as those that are Lynch patients with Lynch syndrome, the recommendation currently, and it's not a strong recommendation, is a urinalysis on a yearly basis. There are no other strong recommendations in terms of surveillance, such as imaging or ureteroscopy. However, we know those patients have about 14% risk of developing upper tract urothelial cancer and a non-negligible risk of developing bladder cancer, which is what the lower tract is. Because of that there are recommendations to screen for genetic mutations, in addition to potentially urinalysis and surveillance of those patients.

This transcription has been edited for clarity.

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