जर्नल ऑफ़ क्लिनिकल एंड एक्सपेरिमेंटल डर्मेटोलॉजी रिसर्च
खुला एक्सेस

अमूर्त

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.