Genetic alterations in main candidate genes during melanoma progression

Oncotarget
Maria Cristina SiniGiuseppe Palmieri

Abstract

Cutaneous melanoma is a common and aggressive human skin cancers. Much is actually known about the molecular mechanisms underlying melanoma pathogenesis. The aim of the study was to evaluate any possible correlation between mutations in main growth-controlling genes (BRAF, NRAS, CDKN2A) and copy number variations in frequently amplified candidate genes (MITF, EGFR, CCND1, cMET,andcKIT) during melanoma initiation and progression. A large series of primary and secondary melanoma tissue samples (N= 274) from 232 consecutively-collected patients of Italian origin as well as 32 tumor cell lines derived from primary and metastatic melanomas underwent mutation screening and fluorescence in situ hybridization (FISH) analysis. Overall,BRAF, NRAS,andCDKN2Awere found mutated in 62.5%, 12.5% and 59% cell lines and in 47%, 16%, 12% tumor tissues, respectively. Quite identical mutation patterns between primary tumors and metastatic lesions were found forBRAFandNRASgenes; mutations ofCDKN2Agene appeared to be instead selected during tumor progression. In cell lines, high rates of gene amplifications were observed (varying from 12.5% forcKITto 50% forMITF); vast majority of cell lines (75%) presented at least one amplified gene. Conversely, pr...Continue Reading

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Citations

May 17, 2019·Lasers in Surgery and Medicine·Afshan ShirkavandMohammad H Ghazimoradi
Dec 31, 2019·Cell Cycle·Guergana Tchakarska, Brigitte Sola
Feb 6, 2020·International Journal of Molecular Sciences·Francesca Varrone, Emilia Caputo
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Nov 13, 2019·BMC Pulmonary Medicine·Maria ColombinoGiuseppe Palmieri
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Jan 14, 2021·International Journal of Molecular Sciences·Sara S FoisGiuseppe Palmieri
Jun 15, 2021·Frontiers in Oncology·Cristian ScatenaSara Tomei
Oct 8, 2021·American Journal of Clinical Pathology·Nisha S RamaniShengle Zhang

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