Unexpected distribution of cKIT and BRAF mutations among southern Italian patients with sinonasal melanoma

Dermatology. 2013;226(3):279-84. doi: 10.1159/000350683. Epub 2013 Jun 29.

Abstract

Background: Racial and geographic factors seem to affect the incidence of cutaneous and mucosal melanoma.

Objective: To investigate the occurrence of BRAF and cKIT impairments in patients with sinonasal melanoma in Southern Italy.

Methods: Eleven sinonasal melanomas were screened for BRAF mutations and cKIT alterations by immunohistochemistry (CD117), fluorescence in situ hybridization and sequencing analyses.

Results: A high prevalence (4/11; 36%) of BRAF mutations and lack of cKIT mutations were observed. Amplification of cKIT was found in 18% of cases; cKIT expression was detectable in 18% non-overlapping cases. No correlation between CD117 and cKIT alterations was observed. One (6%) cKIT and two (12%) BRAF mutations were detected in an additional series of 17 acral/mucosal melanomas from the same geographic areas.

Conclusion: Mutations of cKIT are infrequent in sinonasal melanoma in Southern Italy.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Anus Neoplasms / genetics
  • Choroid Neoplasms / genetics
  • Conjunctival Neoplasms / genetics
  • DNA Mutational Analysis
  • Female
  • Gene Amplification
  • Humans
  • Italy
  • Male
  • Maxillary Sinus Neoplasms / genetics*
  • Maxillary Sinus Neoplasms / pathology
  • Melanoma / chemistry
  • Melanoma / genetics*
  • Melanoma / pathology
  • Middle Aged
  • Mouth Neoplasms / genetics
  • Mucous Membrane
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins c-kit / analysis
  • Proto-Oncogene Proteins c-kit / genetics*
  • Retrospective Studies
  • Skin Neoplasms / genetics*
  • Vulvar Neoplasms / genetics
  • White People / genetics

Substances

  • Proto-Oncogene Proteins c-kit
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf