BRAF and KIT somatic mutations are present in amelanotic melanoma

Daniela Massi, Pamela Pinzani, Lisa Simi, Francesca Salvianti, Vincenzo De Giorgi, Maria A. Pizzichetta, Francesco Mirri, Agostino Steffan, Claudio Orlando, Marco Santucci, Vincenzo Canzonieri

Research output: Contribution to journalArticlepeer-review

Abstract

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 BRAFV600E 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 BRAFV600E mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (≤ 1mm 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 BRAFV600E and KIT mutations in AMs may have important consequences for implementation of the novel targeted therapies now available to treat this life-threatening disease.

Original languageEnglish
Pages (from-to)414-419
Number of pages6
JournalMelanoma Research
Volume23
Issue number5
DOIs
Publication statusPublished - 2013

Keywords

  • Amelanotic melanoma
  • BRAFV600E
  • KIT
  • Somatic mutations

ASJC Scopus subject areas

  • Cancer Research
  • Oncology
  • Dermatology
  • Medicine(all)

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