A novel next generation sequencing approach to improve sarcoma diagnosis
Modern Pathology Feb 17, 2020
McConnell L, Houghton O, Stewart P, et al. - Here, researchers present the design and validation of a novel sequencing tool to improve sarcoma diagnosis. They designed and optimized a NGS DNA capture panel containing probes for 87 fusion genes and 7 genes with frequent copy number changes. A cohort of 113 DNA samples obtained from soft-tissue and bone sarcoma FFPE material with clinical FISH and/or RT-PCR outcomes positive for either translocation or gene amplification was applied for validation of the NGS method. Overall, they found 97% sensitivity of the NGS panel with a specificity of 100 and 0% failure rate. Targeted NGS seems to be a reasonable and cost-effective method to increase the sarcoma subtype diagnosis with the ability to screen for a wide range of genetic aberrations in one test.
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