Comparison of targeted next generation sequencing (NGS) versus isolated BRAF V600E analysis in patients with metastatic melanoma

Molecular testing on advanced metastatic melanoma is critical for guiding targeted therapy. Traditionally, this analysis has relied on isolated BRAF V600E analysis; however, more recently targeted next generation sequencing (NGS) is being utilized. The clinical utility of BRAF V600E allele-specific PCR and targeted NGS were compared for metastatic melanoma samples sent to UHCMC pathology during a two and half year span. In two thirds of cases, negative for BRAF V600E, additional mutations were detected that may stratify patients for potential or approved targeted therapies. Targeted-NGS testing is feasible and cost-affordable and provides additional potentially actionable information for patients with BRAF V600E/K negative metastatic melanoma. Based on this analysis, we have adopted to screen patients with advanced melanoma with allele-specific V600E/K PCR and reflex negative cases for targeted NGS to maximize patient benefit.