title: CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.
abstract: 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.
authors.affiliation: Dipartimento di Oncologia, Biologia e Genetica, Università di Genova, Genova, Italy. paola.ghiorzo@unige.it
authors.forename: Paola
authors.initials: P
authors.lastname: Ghiorzo
authors.forename: Lorenza
authors.initials: L
authors.lastname: Pastorino
authors.forename: Maria A
authors.initials: MA
authors.lastname: Pizzichetta
authors.forename: Riccardo
authors.initials: R
authors.lastname: Bono
authors.forename: Paola
authors.initials: P
authors.lastname: Queirolo
authors.forename: Renato
authors.initials: R
authors.lastname: Talamini
authors.forename: Giorgio
authors.initials: G
authors.lastname: Annessi
authors.forename: William
authors.initials: W
authors.lastname: Bruno
authors.forename: Sabina
authors.initials: S
authors.lastname: Nasti
authors.forename: Sara
authors.initials: S
authors.lastname: Gargiulo
authors.forename: Linda
authors.initials: L
authors.lastname: Battistuzzi
authors.forename: Maria C
authors.initials: MC
authors.lastname: Sini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Palmieri
authors.forename: Giovanna Bianchi
authors.initials: GB
authors.lastname: Scarrà