Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain

BACKGROUND: About 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families. OBJECTIVE: To characterise the clinical and histopathological characteristics of familial melanoma thus providing more information to clinicians and contribute to the understanding of the genetic-environment interplay in the pathogenesis of melanoma. METHODS: Clinical, histological and immunohistochemical characteristics of 62 familial melanomas were compared with 127 sporadic melanomas. RESULTS: variables associated with familial melanoma were earlier age at diagnosis (OR 1.036; 95% CI 1.017–1.055), lower Breslow thickness (OR 1.288; 95% CI 1.013–1.683) and in situ melanomas (OR 2.645; 95% CI 1.211–5.778). Variables associated with CDKN2A mutation carriers were earlier age at diagnosis (OR 1.060; 95% CI 1.016–1.105), in situ melanomas (OR 6.961; 95% CI 1.895–25.567), the presence of multiple melanomas (OR 8.920; 95% CI 2.399–33.166) and the immunopositivity of the tumours for cytoplasmic survivin (OR 9.072; 95% CI 1.025–85.010). CONCLUSIONS: Familial melanoma was significantly associated with the earlier age of onset, lower Breslow thickness and with a higher number of in situ melanomas; and also carriers of CDKN2A mutations were associated with a higher risk of multiple melanomas and cytoplasmic survivin immunostaining.