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Colombino et al. Journal of Translational Medicine 2014, 12:117 http://www.translational-medicine/content/12/1/RESEARCHOpen AccessDiscrepant alterations in primary candidate genes among a number of major melanomasMaria Colombino1, MariaCristina Sini1, Amelia Lissia2, Vincenzo De Giorgi3, Ignazio Stanganelli4, Fabrizio Ayala5, Daniela Massi6, Corrado Rubino7, Antonella Manca1, Panagiotis Paliogiannis2, Susanna Rossari3, Serena Magi4, Laura Mazzoni4, Gerardo Botti5, Mariaelena Capone5, Marco Palla5, Paolo A Ascierto5, Antonio Cossu2, Giuseppe Palmieri1* and on behalf with the Italian Melanoma Intergroup (IMI)AbstractBackground: Alterations in key-regulator genes of disease pathogenesis (BRAF, cKIT, CyclinD1) happen to be evaluated in individuals with many primary melanoma (MPM).MF59 Procedures: 1 hundred twelve MPM sufferers (96 circumstances with two principal melanomas, 15 with 3, and 1 with 4) had been incorporated in to the study.PMID:24507727 Paired synchronous/asynchronous MPM tissues (N = 229) were analyzed for BRAF mutations and cKIT/CyclynD1 gene amplifications. Outcomes: BRAF mutations had been identified in 109/229 (48 ) key melanomas, whereas cKIT and CyclinD1 amplifications have been observed in 10/216 (5 ) and 29/214 (14 ) tumor tissues, respectively. Whilst frequency prices of BRAF mutations have been rather identical across the different MPM lesions, a considerable raise of cKIT (p 0.001) and CyclinD1 (p = 0.002) amplification prices was observed amongst initially and subsequent main melanomas. Among the 107 patients with paired melanoma samples, 53 (49.five ) presented consistent alteration patterns in between very first and subsequent major tumors. About one particular third (40/122; 32.8 ) of subsequent melanomas presented a discrepant pattern of BRAF mutations as in comparison with incident main tumors. Conclusions: The low consistency in somatic mutation patterns among MPM lesions from similar sufferers.
