Discrepant alterations in main candidate genes among multiple primary melanomas

Alterations in key-regulator genes of disease pathogenesis (BRAF, cKIT, CyclinD1) have been evaluated in patients with multiple primary melanoma (MPM). One hundred twelve MPM patients (96 cases with two primary melanomas, 15 with three, and 1 with four) were included into the study. Paired synchrono...

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Bibliographic Details
Published in:Journal of translational medicine 2014-05, Vol.12 (1), p.117-117, Article 117
Main Authors: Colombino, Maria, Sini, MariaCristina, Lissia, Amelia, De Giorgi, Vincenzo, Stanganelli, Ignazio, Ayala, Fabrizio, Massi, Daniela, Rubino, Corrado, Manca, Antonella, Paliogiannis, Panagiotis, Rossari, Susanna, Magi, Serena, Mazzoni, Laura, Botti, Gerardo, Capone, Mariaelena, Palla, Marco, Ascierto, Paolo A, Cossu, Antonio, Palmieri, Giuseppe
Format: Article
Language:English
Subjects:
Adult
Analysis
Cell growth
Cyclin D1 - genetics
Female
Gene mutations
Genes
Genetic aspects
Humans
Kinases
Male
Melanoma - genetics
Middle Aged
Mutation
Proto-Oncogene Proteins B-raf - genetics
Proto-Oncogene Proteins c-kit - genetics
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Summary:Alterations in key-regulator genes of disease pathogenesis (BRAF, cKIT, CyclinD1) have been evaluated in patients with multiple primary melanoma (MPM). One hundred twelve MPM patients (96 cases with two primary melanomas, 15 with three, and 1 with four) were included into the study. Paired synchronous/asynchronous MPM tissues (N=229) were analyzed for BRAF mutations and cKIT/CyclynD1 gene amplifications. BRAF mutations were identified in 109/229 (48%) primary melanomas, whereas cKIT and CyclinD1 amplifications were observed in 10/216 (5%) and 29/214 (14%) tumor tissues, respectively. While frequency rates of BRAF mutations were quite identical across the different MPM lesions, a significant increase of cKIT (p
ISSN:1479-5876
1479-5876
DOI:10.1186/1479-5876-12-117