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Karger Publishers, Dermatology, 3(226), p. 279-284, 2013

DOI: 10.1159/000350683

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Unexpected Distribution of <b><i>cKIT</i></b> and <b><i>BRAF</i></b> Mutations among Southern Italian Patients with Sinonasal Melanoma

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

<b><i>Background:</i></b> Racial and geographic factors seem to affect the incidence of cutaneous and mucosal melanoma. <b><i>Objective:</i></b> To investigate the occurrence of <i>BRAF</i> and <i>cKIT</i> impairments in patients with sinonasal melanoma in Southern Italy. <b><i>Methods:</i></b> Eleven sinonasal melanomas were screened for <i>BRAF</i> mutations and <i>cKIT</i> alterations by immunohistochemistry (CD117), fluorescence in situ hybridization and sequencing analyses. <b><i>Results:</i></b> A high prevalence (4/11; 36%) of <i>BRAF</i> mutations and lack of <i>cKIT</i> mutations were observed. Amplification of <i>cKIT</i> was found in 18% of cases; cKIT expression was detectable in 18% non-overlapping cases. No correlation between CD117 and <i>cKIT</i> alterations was observed. One (6%) <i>cKIT</i> and two (12%) <i>BRAF</i> mutations were detected in an additional series of 17 acral/mucosal melanomas from the same geographic areas. <b><i>Conclusion:</i></b> Mutations of <i>cKIT</i> are infrequent in sinonasal melanoma in Southern Italy.