Multiplex Mutation Screening by Mass Spectrometry: Evaluation of 820 Cases from a Personalized Cancer Medicine Registry

摘要: There is an immediate and critical need for a rapid, broad-based genotyping method that can evaluate multiple mutations simultaneously in clinical cancer specimens identify patients most likely to benefit from targeted agents now use or late-stage development. We have implemented prospective approach characterize the frequency spectrum of amenable drug targeting present urothelial, colorectal, endometrioid, thyroid carcinomas melanoma. Cancer were enrolled Personalized Medicine Registry houses both information data, mutation screening was performed using multiplexed assay panel with mass spectrometry–based analysis detect 390 across 30 genes. Formalin fixed, paraffin-embedded evaluated 820 patients. The genes frequently mutated types BRAF, PIK3CA, KRAS, NRAS. Less common also observed AKT1, CTNNB1, FGFR2, FGFR3, GNAQ, HRAS, MAP2K1. Notably, 48 77 PIK3CA-mutant cases (62%) harbored at least one additional another gene, often KRAS. Among melanomas, only 54 73 BRAF (74%) V600E substitution. These findings demonstrate diversity complexity druggable targets among different underscore broad-spectrum, personalized medicine.