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

Maria Colombino, Amelia Lissia, Renato Franco, Gerardo Botti, Paolo A. Ascierto, Antonella Manca, Maria Cristina Sini, Marina Pisano, Panagiotis Paliogiannis, Francesco Tanda, Giuseppe Palmieri, Antonio Cossu

Research output: Contribution to journalArticle

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 (411; 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 acralmucosal melanomas from the same geographic areas. Conclusion: Mutations of cKIT are infrequent in sinonasal melanoma in Southern Italy.

Original languageEnglish
Pages (from-to)279-284
Number of pages6
JournalDermatology
Volume226
Issue number3
DOIs
Publication statusPublished - Aug 2013

Keywords

  • BRAF
  • cKIT
  • Melanoma
  • Mutation analysis
  • Sinonasal

ASJC Scopus subject areas

  • Dermatology

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  • Cite this

    Colombino, M., Lissia, A., Franco, R., Botti, G., Ascierto, P. A., Manca, A., Sini, M. C., Pisano, M., Paliogiannis, P., Tanda, F., Palmieri, G., & Cossu, A. (2013). Unexpected distribution of cKIT and BRAF mutations among southern italian patients with sinonasal melanoma. Dermatology, 226(3), 279-284. https://doi.org/10.1159000350683