Familial aggregation of malignant melanoma/dysplastic naevi and tumours of the nervous system: an original syndrome of tumour proneness

Ann Genet. 1997;40(2):78-91.

Abstract

A five-generation family is here reported in which several members developed malignant melanoma, dysplastic naevi, astrocytoma in all grades, benign or malignant schwannoma, neurofibroma, or meningioma in a single instance. Significant cosegregation of skin and nervous tumours, preclusion of allelism to type 1 neurofibromatosis and phenotypic departure from known syndromes of hereditary proneness to cancer make one suggest an original familial predisposition to both malignant melanoma and central/peripheral nervous tumours.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Dysplastic Nevus Syndrome / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Karyotyping
  • Male
  • Melanoma / genetics*
  • Nervous System Neoplasms / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Skin Neoplasms / genetics*
  • Syndrome