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 | |
| Publication status | Published - 2013 |
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Keywords
- BRAF
- cKIT
- Melanoma
- Mutation analysis
- Sinonasal
ASJC Scopus subject areas
- Dermatology
Cite this
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
}
TY - JOUR
T1 - Unexpected distribution of cKIT and BRAF mutations among Southern Italian patients with sinonasal melanoma
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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UR - http://www.scopus.com/inward/citedby.url?scp=84927693276&partnerID=8YFLogxK
U2 - 10.1159/000350683
DO - 10.1159/000350683
M3 - Article
C2 - 23817129
AN - SCOPUS:84927693276
VL - 226
SP - 279
EP - 284
JO - Dermatology
JF - Dermatology
SN - 1018-8665
IS - 3
ER -