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

Colombino, Maria and Lissia, Amelia and Franco , Renato and Botti, Gerardo and Ascierto, Paolo Antonio and Manca, Antonella and Sini, Maria Cristina and Pisano, Marina and Paliogiannis, Panagiotis and Tanda, Francesco and Palmieri, Giuseppe and Cossu, Antonio (2013) Unexpected distribution of cKIT and BRAF mutations among Southern Italian patients with sinonasal melanoma. Dermatology, Vol. 226 (3), p. 279-284. ISSN 1018-8665. eISSN 1421-9832. Article.

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DOI: 10.1159/000350683


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.

Item Type:Article
ID Code:9548
Uncontrolled Keywords:Melanoma, sinonasal, BRAF, cKIT, mutation analysis
Subjects:Area 06 - Scienze mediche > MED/08 Anatomia patologica
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Chirurgiche, Microchirurgiche e Mediche
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di chimica biomolecolare, Sassari > Unità genetica dei tumori
Publisher:S. Karger AG
Copyright Holders:© 2013 S. Karger AG, Basel
Deposited On:20 Dec 2013 08:16

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