AUA 2017: Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma

Boston, MA ( Lynch Syndrome (LS) is an autosomal dominant inherited syndrome with a higher risk for upper tract urothelial carcinoma (UTUC). Dr. Metcalfe presented a study from MD Anderson cancer center with a goal to identify the most reliable means of screening for LS in patients with UTUC at the point of care (POC).

All patient who were treated for UTUC had their information retrospectively collected. Screening was universally performed on all patients presenting during the study period, beginning 2013. The authors evaluated patient and family history (Amsterdam I and II criteria; AMS1 and AMS2, respectively), tumor immunohistochemistry (IHC) for 4 mismatch repair proteins (MMRP), tumor and normal tissue polymerase-chain reaction for microsatellite instability (MSI), and clinical genetic analysis and counseling (GAC), in those with undiagnosed LS. Patients who were AMS 2 positive, IHC positive, or MSI positive were considered as presumed lynch syndrome (pLS).

From 1/2013-7/2016, 115 UTUC patients without a history of LS were universally screened during clinical follow-up. A total of 19/115 patients were pLS. 2/115 (2%) patients met AMS2 criteria. 15 (13%) patients had either loss of one or more MMRP. MSI testing was performed for 91 patients. All patients with any positive screen were referred for GAC. Only 5/19 patients followed-up and all 5 patients had a confirmed germline mutation of LS. Patients with pLS were more likely to have disease in the mid ureter (20%) and distal ureter (20%) the pLS negative patients, p=0.0255.

The authors identified 17% of apparently sporadic UTUC patients having pLS with significant implications of screening, as this is one of the highest rates of genetic disease in urologic cancers. Point of care testing with AMS and IHC captured all pLS cases.

Presented By: Michael Metcalfe, Houston, TX

Written By: Hanan Goldberg, MD, Urologic Oncology Fellow (SUO), University of Toronto, Princess Margaret Cancer Centre

at the 2017 AUA Annual Meeting - May 12 - 16, 2017 – Boston, Massachusetts, USA