Clinical grade “SNaPshot” genetic mutation profiling in multiple myeloma.

Abstract

e19571 Background: Whole genome sequencing studies have identified several oncogenic mutations in multiple myeloma (MM). In particular, mutations in BRAF, a potential druggable target, have been identified in 4% of patients. The nature of MM is that it is a chronic, relapsing illness. As MM evolves, there is a role for rapid determination of whether targetable mutations are present to optimize individualized treatment of disease. Methods: Massachusetts General Hospital has developed a CLIA (Clinical Laboratory Improvement Amendments) high-throughput, genotyping platform to determine the mutation status of a large panel of known cancer genes. The mutation detection protocol, termed SNaPshot, uses a highly sensitive multiplexed PCR-based assay to simultaneously identify 70 genetic loci frequently mutated in 15 cancer genes. This assay has been used at our institution for over 4 years for tumor genotyping and to help guide therapeutic decisions for patients with various malignancies. We performed SNaPshot an...