BRAF and KIT somatic mutations are present in amelanotic melanoma

11he genotypic profile of rare amelanotic melanomas (AMs) has been poorly investigated, thus preventing either an accurate identification as a distinctive melanoma subtype or therapy stratification. Here, we investigated the presence of the BRAF(V600E) mutation by real-time quantitative PCR and KIT mutations (exons 11 and 17) by sequencing analysis in 33 AMs. AMs included truly' amelanotic lesions (n=19), with no melanin pigmentation upon dermoscopic inspection and hypomelanotic lesions (n=14), by definition partially pigmented lesions showing a melanin pigmentation area of less than 25% of the total surface area. The frequency of the BRAF(V600E) mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (1 mm in thickness, n=9) was considered. KIT mutations were found in 12.1% of AMs, all of which developed in nonacral sites. The identification of a relatively high frequency of BRAF(V600E) and KIT mutations in AMs may have important consequences for implementation of the novel targeted therapies now available to treat this life-threatening disease. (C) 2013 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.nonemixedMassi D; Pinzani P; Simi L; Salvianti F; De Giorgi V; Pizzichetta MA; Mirri F; Steffan A; Orlando C; Santucci M; Canzonieri VMassi, D; Pinzani, P; Simi, L; Salvianti, F; De Giorgi, V; Pizzichetta, Ma; Mirri, F; Steffan, A; Orlando, C; Santucci, M; Canzonieri,