Familial atypical multiple mole melanoma (FAMMM) syndrome: genetic heterogeneity and malignant melanoma

摘要: Clinical-pathologic-genetic studies were performed on 3 kindreds showing the familial atypical multiple mole-melanoma syndrome (FAMMM). Findings showed vertical transmission, including father-to-son, of cutaneous malignant melanoma and/or FAMMM moles with no sex predilection. A broad spectrum clinical signs characterizing phenotype ranged from an apparent lack disease expression through minimal, moderate, and florid manifestations. An extreme example was a patient 9 separate primary melanomas in 18 years. The histologically compound nevocellular nevi varying degrees dysplasia melanocytes, increased occurrence fibroplasia, chronic inflammation within papillary dermis. Of further interest marked variation degree between families. These observations, when coupled recent reports by others, are consistent autosomal dominant gene markedly variable expressivity. Management these patients is difficult, as one cannot be certain which require biopsy then, following histological study, will wider excision. Studies should deal carefully its natural history, patient's lifelong susceptibility to multiply melanomas, possibility that cancer other anatomic sites may integral components this hereditary syndrome.