Genetic Profiling of Advanced Melanoma: Candidate Mutations for Predicting Sensitivity and Resistance to Targeted Therapy

Abstract

Pathogenic mutations identified by gene panel sequencing have potential predictive value for targeted therapy of melanoma and are worth further validation in a larger series of cases. The role of some known mutations (e.g. CDK4^R24, PTEN c.801 + 1G > A, CTNNB1^S45F) as well as variants of unknown significance identified in this study (e.g. MITF^R316K, KIT^G498S) in the generation of resistance to BRAF/MEK inhibitors should be further investigated.