Familial atypical multiple mole melanoma (Fammm) syndrome

Genetic heterogeneity and malignant melanoma

Henry T. Lynch, R. M. Fusaro, J. Pester, J. F. Lynch

Research output: Contribution to journalArticle

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Abstract

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 of clinical signs characterizing the phenotype ranged from an apparent lack of disease expression through minimal, moderate, and florid manifestations. An extreme example was a patient with 9 separate primary melanomas in 18 years. The FAMMM moles were histologically compound nevocellular nevi with varying degrees of dyslIasia of the melanocytes, an increased occurrence of fibroplasia, and chronic inflammation within the papillary dermis. Of further interest was marked variation in the degree of dysplasia in moles between and within families. These observations, when coupled with recent reports by others, are consistent with an autosomal dominant gene showing markedly variable expressivity. Management of these patients is difficult, as one cannot be certain which moles require biopsy and then, following histological study, which will require wider excision. Studies of the FAMMM syndrome should deal carefully with its natural history, including the patient's lifelong susceptibility to multiple malignant melanomas, and the possibility that cancer of other anatomic sites may be integral components of this hereditary cancer syndrome.

Original languageEnglish
Pages (from-to)58-70
Number of pages13
JournalBritish Journal of Cancer
Volume42
Issue number1
DOIs
StatePublished - 1980

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Dysplastic Nevus Syndrome
Genetic Heterogeneity
Melanoma
Hereditary Neoplastic Syndromes
Dominant Genes
Nevus
Melanocytes
Dermis
Natural History
Nuclear Family
Fathers
Inflammation
Phenotype
Biopsy
Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Familial atypical multiple mole melanoma (Fammm) syndrome : Genetic heterogeneity and malignant melanoma. / Lynch, Henry T.; Fusaro, R. M.; Pester, J.; Lynch, J. F.

In: British Journal of Cancer, Vol. 42, No. 1, 1980, p. 58-70.

Research output: Contribution to journalArticle

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abstract = "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 of clinical signs characterizing the phenotype ranged from an apparent lack of disease expression through minimal, moderate, and florid manifestations. An extreme example was a patient with 9 separate primary melanomas in 18 years. The FAMMM moles were histologically compound nevocellular nevi with varying degrees of dyslIasia of the melanocytes, an increased occurrence of fibroplasia, and chronic inflammation within the papillary dermis. Of further interest was marked variation in the degree of dysplasia in moles between and within families. These observations, when coupled with recent reports by others, are consistent with an autosomal dominant gene showing markedly variable expressivity. Management of these patients is difficult, as one cannot be certain which moles require biopsy and then, following histological study, which will require wider excision. Studies of the FAMMM syndrome should deal carefully with its natural history, including the patient's lifelong susceptibility to multiple malignant melanomas, and the possibility that cancer of other anatomic sites may be integral components of this hereditary cancer syndrome.",
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