A Novel Next-Generation Sequencing Approach to Detecting Microsatellite Instability (MSI) and Pan-Tumor Characterization of One Thousand MSI-High Cases in 67,000 Patient Samples

Microsatellite instability (MSI) is an important biomarker for predicting response to immune checkpoint inhibitor therapy, as emphasized by the recent checkpoint inhibitor approval for MSI-H solid tumors. Here we describe and validate a novel method for determining MSI status from a next-generation sequencing comprehensive genomic profiling assay using formalin-fixed, paraffin-embedded samples. This method is 97% (65/67) concordant with current standards, PCR and immunohistochemistry. We further apply this method to over 67,000 patient tumor samples to identify genes and pathways that are enriched in MSI-stable (MSS) or MSI-High (MSI-H) tumor groups.

Source: Journal of Molecular Diagnostics - August 21, 2019 Category: Pathology Authors: Sally E. Trabucco, Kyle Gowen, Sophia L. Maund, Eric Sanford, David A. Fabrizio, Michael J. Hall, Evgeny Yakirevich, Jeffrey P. Gregg, Phil J. Stephens, Garrett M. Frampton, Priti S. Hegde, Vincent A. Miller, Jeffrey S. Ross, Ryan J. Hartmaier, Shih-Min A Source Type: research