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Discrepant alterations in main candidate genes among multiple primary melanomas

Colombino, Maria and Sini, Maria Cristina and Lissia, Amelia and De Giorgi, Vincenzo and Stanganelli, Ignazio and Ayala, Fabrizio and Massi, Daniela and Rubino, Corrado and Manca, Antonella and Paliogiannis, Panagiotis and Rossari, Susanna and Magi, Serena and Mazzoni, Laura and Botti, Gerardo and Capone, Mariaelena and Palla, Marco and Ascierto, Paolo Antonio and Cossu, Antonio and Palmieri, Giuseppe (2014) Discrepant alterations in main candidate genes among multiple primary melanomas. Journal of translational medicine, Vol. 12 (117). eISSN 1479-5876. Article.

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DOI: 10.1186/1479-5876-12-117

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Abstract

Background: Alterations in key-regulator genes of disease pathogenesis (BRAF, cKIT, CyclinD1) have been evaluated in patients with multiple primary melanoma (MPM).
Methods: 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.
Results: 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 < 0.001) and CyclinD1 (p = 0.002) amplification rates was observed between first and subsequent primary melanomas. Among the 107 patients with paired melanoma samples, 53 (49.5%) presented consistent alteration patterns between first and subsequent primary tumors. About one third (40/122; 32.8%) of subsequent melanomas presented a discrepant pattern of BRAF mutations as compared to incident primary tumors.
Conclusions: The low consistency in somatic mutation patterns among MPM lesions from same patients provides further evidence that melanomagenesis is heterogeneous and different cell types may be involved. This may have implications in clinical practice due to the difficulties in molecularly classifying patients with discrepant primary melanomas.

Item Type:Article
ID Code:9889
Status:Published
Refereed:Yes
Uncontrolled Keywords:Multiple melanoma, mutation analysis, gene amplification, melanomagenesis, molecular classification
Subjects:Area 06 - Scienze mediche > MED/19 Chirurgia plastica
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Chirurgiche, Microchirurgiche e Mediche
002 Altri enti e centri di ricerca del Nord Sardegna > CNR-Consiglio Nazionale delle Ricerche > Istituto di chimica biomolecolare, Sassari
Publisher:BioMed Central
eISSN:1479-5876
Copyright Holders:© 2014 Colombino et al.; licensee BioMed Central Ltd.
Deposited On:19 Jun 2014 11:26

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