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.
Financial & competing interests disclosure
M Takata was supported by Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (grant no. 23591619). The author has no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.