Dermatology (Basel, Switzerland) · 2013
Unexpected distribution of cKIT and BRAF mutations among southern Italian patients with sinonasal melanoma.
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Colombino Maria, Lissia Amelia, Franco Renato, Botti Gerardo, Ascierto Paolo A, Manca Antonella, Sini Maria Cristina, Pisano Marina, Paliogiannis Panagiotis, Tanda Francesco, Palmieri Giuseppe, Cossu Antonio
Аннотация
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.
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.
Предметные рубрики MeSH
AgedAged, 80 and overAnus NeoplasmsChoroid NeoplasmsConjunctival NeoplasmsDNA Mutational AnalysisFemaleGene AmplificationHumansItalyMaleMaxillary Sinus NeoplasmsMelanomaMiddle AgedMouth NeoplasmsMucous MembraneMutationProto-Oncogene Proteins B-rafProto-Oncogene Proteins c-kitRetrospective StudiesSkin NeoplasmsVulvar NeoplasmsWhite People