Abstract
We report two cases of familial malignant melanoma. Case 1 : a 34-year-old Japanese male was referred to our hospital with a 15×18 mm irregularly pigmented macule on his chest and multiple moles on almost his entire body. His father died owing to liver metastasis of a malignant melanoma on the bulbar conjunctiva. The lesion on his breast was excised, and the result of the histopathological examination of the specimen was a malignant melanoma. Moreover, the mole on his back showed dysplastic nevus. Case2 : a 63-year-old female presented with a black nodule on her lower abdomen. Her elder sister underwent an operation on a malignant melanoma of the leg 30 years ago. Although we excised the tumor from her abdomen, the pathological diagnosis was also a malignant melanoma. Cases 1 and 2 were both diagnosed as familial malignant melanomas from the above findings. In addition, a germline mutation in neither the CDKN2A nor the CDK4 gene was identified in genomic DNA prepared from the peripheral blood of case 1, suggesting the involvement of other gene abnormalities in his malignant melanoma pathogenesis.[Skin Cancer (Japan) 2013 ; 28 : 268-273]
