Identifying BRAF and KIT mutations in melanoma

Abstract

Approximately 50% of melanomas harbor an activating mutation in codon 600 of the BRAF gene, while KIT mutations are found in 10–20% of acral and mucosal melanomas and melanomas on chronically sun-damaged skin. Because of the remarkable efficacy of oral kinase inhibitors, such as vemurafenib and imatinib, for melanomas harboring mutations in BRAF and KIT genes, molecular testing identifying mutations in these oncogenes is becoming important in patients with advanced melanoma. Since standardized mutation testing for BRAF and KIT is not currently available, the doctors should know the strengths and limitations of different testing procedures. Because of the intertumor heterogeneity of BRAF and KIT mutations, isolation and genotyping of circulating melanoma cells may provide vital information for optimal patient care.