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

doi:10.1159/000350683

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

Istituto Nazionale Tumori Fondazione G. Pascale

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	279-284
Number of pages	6
Journal	Dermatology
Volume	226
Issue number	3
DOIs	https://doi.org/10.1159/000350683
Publication status	Published - 2013

Keywords

BRAF
cKIT
Melanoma
Mutation analysis
Sinonasal

ASJC Scopus subject areas

Dermatology

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

In: Dermatology, Vol. 226, No. 3, 2013, p. 279-284.

Research output: Contribution to journal › Article › peer-review

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. / Unexpected distribution of cKIT and BRAF mutations among Southern Italian patients with sinonasal melanoma. In: Dermatology. 2013 ; Vol. 226, No. 3. pp. 279-284.

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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.",

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

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AU - Colombino, Maria

AU - Lissia, Amelia

AU - Franco, Renato

AU - Botti, Gerardo

AU - Ascierto, Paolo A.

AU - Manca, Antonella

AU - Sini, Maria Cristina

AU - Pisano, Marina

AU - Paliogiannis, Panagiotis

AU - Tanda, Francesco

AU - Palmieri, Giuseppe

AU - Cossu, Antonio

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - BRAF

KW - cKIT

KW - Melanoma

KW - Mutation analysis

KW - Sinonasal

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