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WCE 2017: Should All UTUC Patients be Screened for Lynch Syndrome? A Single Center Analysis of the Role of Screening UTUC patients for Lynch Syndrome

Vancouver, Canada (UroToday.com) Matin et al. present a retrospective single-institution study of 115 patients who were diagnosed with upper tract urothelial carcinoma (UTUC) and received point-of-care screening tests for Lynch Syndrome (LS). Screening tests included the Amsterdam criteria I/II, immunohistochemistry (IHC) for loss of expression of one or more mismatch repair proteins (i.e., MLH1, MSH2, MSH6, and PMS2), and microsatellite instability (MSI) testing. Patients with a known history of LS were excluded. Patients who screened positive for potential LS were referred for additional genetic analysis and counseling. 

Sixteen patients (14%) screened positive for potential LS with six patients (5%) confirmed to have LS on subsequent germline testing. The number of patients with confirmed LS in this study differs substantially from previously reported findings of undiagnosed LS in 16% of patients with UTUC. This discrepancy is attributable to the method of testing used.

All 115 patients received IHC testing. MSI testing was ordered for 106 patients (92%) and was completed by 91 patients (79%). There was no additive benefit of conducting MSI testing as the combined use of the Amsterdam criteria and IHC testing identified all patients with potential LS in this study. This supports the updated 2015 guidelines from the European Association of Urology, which state a lack of evidence to support MSI testing in clinical decision marking. However, the 2015 guidelines do recommend germline DNA sequencing for those patients suspected to have hereditary UTUC. Germline testing was ordered for all 19 patients who screened positive in this study, but was completed by only five patients, all of whom were confirmed to have LS.

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Authors: Surena F. Matin, Michael J. Metcalfe, Firas Petros, Priya Rao, Maureen Mork, Lianchun Xiao, and Russell Broaddus – MD Anderson Cancer Center, Houston, TX, USA

Written by: Michael Owyong (@ohyoungmike), LIFT Fellow, Department of Urology, UC Irvine Medical Center, Orange, CA, USA  at the 35th World Congress of Endourology– September 12-16, 2017, Vancouver, Canada.