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.