Ghiorzo, Paola and Pastorino, Lorenza and Pizzicchetta, Maria Antonietta and Bono, Riccardo and Queirolo, Paola and Talamini, Renato and Annessi, Giorgio and Bruno, William and Nasti, Sabina and Gargiulo, Sara and Battistuzzi, Linda and Sini, Maria Cristina and Palmieri, Giuseppe and Scarrà Bianchi, Giovanna (2009) CDKN2A and MC1R analysis in amelanotic and pigmented melanoma. Melanoma Research, Vol. 19 (3), p. 142-145. ISSN 0960-8931. Article.
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Amelanotic melanoma (AM) is a rare subtype of melanoma with little or no clinically visible pigment; it is more difficult to diagnose than pigmented melanoma (PM), and has a worse prognosis. In the attempt to find a genetic explanation for the distinction between AM and PM, we conducted a case–case study, matching AM and PM patients, and testing them for germline mutations in high- (p16INK4A, p14ARF, CDK4) and low-penetrance (MC1R) melanoma susceptibility genes. Similar CDKN2A mutations were found in both sets of melanomas. A p14ARF splice germline mutation was detected for the first time in an Italian family with AM. This rare mutation, which has been described only once previously, may be involved in predisposition to the amelanotic phenotype in combination with germline MC1R variants and coordinate somatic expression of pigmentation genes and their regulators.
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