Abstract
BackgroundAbout 6 to 14% of melanoma cases occur in a familial setting. Germline mutations in CDKN2A are detected in 20 to 40% of melanoma families.ObjectiveTo 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.MethodsClinical, histological and immunohistochemical characteristics of 62 familial melanomas were compared with 127 sporadic melanomas.Resultsvariables 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).ConclusionsFamilial 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.
Highlights
Melanoma (MM) is the human malignancy that has undergone the greatest increase in incidence during the last few decades.Population Studies suggest that approximately 6 to 14% of melanoma cases occur in a familial setting [1]
Several studies have reported that patients with melanoma and a CDKN2A mutation have an earlier age of onset and an increased risk of multiple primary melanomas (MPM) [5,6,7]
Comparing the histological subtype of MM between the two groups we found significant differences among SSMM; we found that 82.3% of the familial melanoma tumours were of SSMM type vs the 61.4% of the sporadic melanomas, p
Summary
Melanoma (MM) is the human malignancy that has undergone the greatest increase in incidence during the last few decades.Population Studies suggest that approximately 6 to 14% of melanoma cases occur in a familial setting [1]. 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 carriers of CDKN2A mutations were associated with a higher risk of multiple melanomas and cytoplasmic survivin immunostaining
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