Melanoma is one of the clinically most important cancer types considering its high mortality rate and that it is commonly diagnosed in relatively young people. With the advent of targeted therapies and, more recently, immune checkpoint inhibitors, more treatment options are available resulting in higher patient survival rates. However, the successful application of these targeted therapies critically depends on the reliable detection of molecular aberrations. Today, massively parallel sequencing techniques enable us to analyze large sets of genes in a relatively short time. It has allowed increased knowledge of acquired somatic mutations in melanoma and has helped to identify new targets for personalized therapy, and potentially may help to predict response to immune therapies. Described here are the development of sequencing techniques, how their improvement has changed diagnosis, prognosis and management of malignant melanoma and the future perspectives of melanoma diagnostics in the routine clinical setting.
Keywords: BRAF; Melanoma; NRAS; Sanger sequencing; molecular pathology; next generation sequencing; targeted therapy.