ஜர்னல் ஆஃப் கிளினிக்கல் & எக்ஸ்பெரிமென்டல் டெர்மட்டாலஜி ரிசர்ச்
திறந்த அணுகல்

சுருக்கம்

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

Paula Aguilera, Josep Malvehy, Cristina Carrera, Josep Palou, Joan Anton Puig-Butillé, Llúcia Alòs, Celia Badenas, Susana Puig

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.