Journal
MELANOMA RESEARCH
Volume 23, Issue 5, Pages 414-419Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/CMR.0b013e32836477d4
Keywords
amelanotic melanoma; BRAF(V600E); KIT; somatic mutations
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Funding
- Fondazione Ente Cassa di Risparmio di Firenze
- C.A.L.C.I.T. Valdarno
- research project 'Integrazione delle attivita di ricerca attraverso la costruzione di strutture e reti di collaborazione interistituzionali - Rete Nazionale Telepatologia (TESEO)' [ACC/R8.5]
- research project 'Ruolo delle fosfoproteine nella chemioresistenza delle cellule staminali tumorali con analisi comparativa immunofenotipica' [527/B/3A/2]
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The 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.
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