Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next Generation Sequencing

Mismatch repair protein deficiency (MMR-D) and high microsatellite instability (MSI-H) are features of Lynch syndrome –associated colorectal carcinomas and have implications in clinical management. We evaluate the ability of a targeted next-generation sequencing panel to detect MMR-D and MSI-H based on mutational phenotype. Using a criterion of>40 total mutations per megabase or>5 single-base insertion or deletion mutations in repeats per megabase, sequencing achieves 92% sensitivity and 100% specificity for MMR-D by immunohistochemistry in a training cohort of 149 colorectal carcinomas and 91% sensitivity and 98% specificity for MMR-D in a validation cohort of 94 additional colorectal carcinomas.

Source: Journal of Molecular Diagnostics - November 14, 2016 Category: Pathology Authors: Jonathan A. Nowak, Matthew B. Yurgelun, Jacqueline L. Bruce, Vanesa Rojas-Rudilla, Dimity L. Hall, Priyanka Shivdasani, Elizabeth P. Garcia, Agoston T. Agoston, Amitabh Srivastava, Shuji Ogino, Frank C. Kuo, Neal I. Lindeman, Fei Dong Tags: Regular Article Source Type: research