Abstract
Purpose of ReviewConventional clinico-pathological features in melanoma patients should be integrated with new molecular diagnostic, predictive, and prognostic factors coming from the expanding genomic profiles. Cutaneous melanoma (CM), even differing in biological behavior according to sun-exposure levels on the skin areas where it arises, is molecularly heterogeneous. The next-generation sequencing (NGS) approaches are providing data on mutation landscapes in driver genes that may account for distinct pathogenetic mechanisms and pathways. The purpose was to group and classify all somatic driver mutations observed in the main NGS-based studies.Recent FindingsWhole exome and whole genome sequencing approaches have provided data on spectrum and distribution of genetic and genomic alterations as well as allowed to discover new cancer genes underlying CM pathogenesis.SummaryAfter evaluating the mutational status in a cohort of 686 CM cases from the most representative NGS studies, three molecular CM subtypes were proposed: BRAFmut, RASmut, and non-BRAFmut/non-RASmut.
Highlights
Cutaneous melanoma (CM) is one of the most aggressive malignancies and its incidence is continuously increasing in the Caucasian population [1]
The introduction of next-generation sequencing (NGS) strategies is speeding up the efforts to identify the whole pattern of mutations involved in the CM pathogenesis [7]
This emphasizes the need to define all or the vast majority of mutational changes in the different melanoma subtypes in order to further progress into the knowledge of the disease onset and to better match subsets of patients to the most appropriate clinical management
Summary
Cutaneous melanoma (CM) is one of the most aggressive malignancies and its incidence is continuously increasing in the Caucasian population [1]. Melanoma is characterized by a molecular heterogeneity, considerably greater than that evidenced by the common histopathological features [2]. The melanoma pathogenesis, referred to as melanomagenesis, is based on the acquisition of sequential alterations in specific genes and pathways controlling metabolic or molecular mechanisms and regulating crucial cell functions [3–6]. Several tumor suppressor genes and/or oncogenes have been reported to be affected by deleterious mutations or structural alterations [3–6]
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