IBCN 2018: Mismatch Repair Deficiency in Upper Tract and Bladder Urothelial Carcinoma

Rotterdam, The Netherlands (UroToday.com) Joost L. Boormans discussed a clinical trial concept regarding mismatch repair deficiency in upper tract and bladder urothelial carcinoma. Lynch syndrome predisposes to upper tract urothelial carcinoma (UTUC) which is the 3^rd most common cancer among patients with this syndrome. Genomics of Lynch syndrome patients versus sporadic UTUC has noted tumor mutational burden higher in the former wit MSI in 46%, however, no difference in gene expression between UTUC and bladder cancer.

Screening patients for Lynch syndrome is important including MMR deficiency. Moreover, determining response to treatments and assessment of treatments including immunotherapy, ie. PD-1 inhibitors is important to elucidate. Checkpoint inhibition appears effective in MMR deficient tumors. Further discovery and validation of screening methodologies underway with whole exome sequencing of tumors. Assessing the impact of screening methodologies and the impact of treatments according to MMR deficiency is also an area of needed research.

Presented by: Joost L. Boormans, Erasmus MC, Rotterdam, Netherlands

Written by: Stephen B. Williams, M.D., Associate Professor, Division of Urology, The University of Texas Medical Branch, Galveston, TX. and Ashish M. Kamat, M.D. Professor, Department of Urology, Division of Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX at the 16th Annual Meeting of the International Bladder Cancer Network (IBCN) October 11-13, 2018 - the Inntel Hotels Rotterdam Centre, Rotterdam, The Netherlands

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