Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.
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Bruno William, Pastorino Lorenza, Ghiorzo Paola, Andreotti Virginia, Martinuzzi Claudia, Menin Chiara, Elefanti Lisa, Stagni Camilla, Vecchiato Antonella, Rodolfo Monica, Maurichi Andrea, Manoukian Siranoush, De Giorgi Vincenzo, Savarese Imma, Gensini Francesca, Borgognoni Lorenzo, Testori Alessandro, Spadola Giuseppe, Mandalà Mario, Imberti Gianlorenzo, Savoia Paola, Astrua Chiara, Ronco Anna Maria, Farnetti Alessandra, Tibiletti Maria Grazia, Lombardo Maurizio, Palmieri Giuseppe, Ayala Fabrizio, Ascierto Paolo, Ghigliotti Giovanni, Muggianu Marisa, Spagnolo Francesco, Picasso Virginia, Tanda Enrica Teresa, Queirolo Paola, Bianchi-Scarrà Giovanna
Аннотация
OBJECTIVE: We sought to determine the CDKN2A/CDK4/microphthalmia-associated transcription factor mutation rate among Italian patients with MPM to appropriately direct genetic counseling regardless of family history.
METHODS: In all, 587 patients with MPM and an equal number with single primary melanomas and control subjects were consecutively enrolled at the participating centers and tested for CDKN2A, CDK4, and microphthalmia-associated transcription factor.
RESULTS: CDKN2A germline mutations were found in 19% of patients with MPM versus 4.4% of patients with single primary melanoma. In familial MPM cases the mutation rate varied from 36.6% to 58.8%, whereas in sporadic MPM cases it varied from 8.2% to 17.6% in patients with 2 and 3 or more melanomas, respectively. The microphthalmia-associated transcription factor E318K mutation accounted for 3% of MPM cases altogether.
LIMITATIONS: The study was hospital based, not population based. Rare novel susceptibility genes were not tested.
CONCLUSION: Italian patients who developed 2 melanomas, even in situ, should be referred for genetic counseling even in the absence of family history.