Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Bell D, Familial atypical multiple mole melanoma syndrome. Reference article, Radiopaedia.org (Accessed on 15 Feb 2025) https://doi.org/10.53347/rID-69146
Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma.
Pathology
Genetics
It is associated with mutations in the CDKN2A gene and shows reduced penetrance and variable expressivity.
Associations
Some FAMMM patients show an increased risk for the development of pancreatic adenocarcinoma and possibly other malignancies.
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1. Lynch HT, Fusaro RM, Pester J, Oosterhuis JA, Went LN, Rumke P, Neering H, Lynch JF. Tumour spectrum in the FAMMM syndrome. (1981) British journal of cancer. 44 (4): 553-60. doi:10.1038/bjc.1981.225 - Pubmed
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2. Kluijt I, Cats A, Fockens P, Nio Y, Gouma DJ, Bruno MJ. Atypical familial presentation of FAMMM syndrome with a high incidence of pancreatic cancer: case finding of asymptomatic individuals by EUS surveillance. (2009) Journal of clinical gastroenterology. 43 (9): 853-7. doi:10.1097/MCG.0b013e3181981123 - Pubmed
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