MSIplus for Integrated Colorectal Cancer Molecular Testing by Next-Generation Sequencing

The Journal of Molecular Diagnostics : JMD
Jennifer A HempelmannStephen J Salipante

Abstract

Molecular analysis of colon cancers currently requires multiphasic testing that uses various assays with different performance characteristics, adding cost and time to patient care. We have developed a single, next-generation sequencing assay to simultaneously evaluate colorectal cancers for mutations in relevant cancer genes (KRAS, NRAS, and BRAF) and for tumor microsatellite instability (MSI). In a sample set of 61 cases, the assay demonstrated overall sensitivity of 100% and specificity of 100% for identifying cancer-associated mutations, with a practical limit of detection at 2% mutant allele fraction. MSIplus was 97% sensitive (34 of 35 MSI-positive cases) and 100% specific (42 of 42 MSI-negative cases) for ascertaining MSI phenotype in a cohort of 78 tumor specimens. These performance characteristics were slightly better than for conventional multiplex PCR MSI testing (97% sensitivity and 95% specificity), which is based on comparison of microsatellite loci amplified from tumor and matched normal material, applied to the same specimen cohort. Because the assay uses an amplicon sequencing approach, it is rapid and appropriate for specimens with limited available material or fragmented DNA. This integrated testing strategy ...Continue Reading

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Jun 3, 2016·Expert Review of Molecular Diagnostics·Loren Joseph
Jan 25, 2020·Annual Review of Pathology·Noah A Brown, Kojo S J Elenitoba-Johnson
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