Neurooncology of familial cancer syndromes

J Child Neurol. 2009 Dec;24(12):1526-35. doi: 10.1177/0883073809337539.


The majority of tumors of the nervous system are sporadic. However, a subset of patients with tumors and their families are predisposed to developing cancers of the central nervous system and other organs because of a germline mutation. In the last decade, many of the genes responsible for these typically autosomal dominant familial tumor syndromes have been identified. Additionally, our understanding of the mechanisms of carcinogenesis in these syndromes has increased, allowing for more targeted therapies for these patients as well as those with sporadic cancers. Because these patients present a unique set of issues regarding diagnosis and neurooncological management, the most common familial cancer syndromes involving the nervous system are reviewed: neurofibromatosis type 1 and 2; tuberous sclerosis complex; von Hippel Lindau, Li-Fraumeni, Gorlin, and Turcot syndrome.

Publication types

  • Review

MeSH terms

  • Basal Cell Nevus Syndrome / genetics
  • Basal Cell Nevus Syndrome / pathology
  • Basal Cell Nevus Syndrome / physiopathology
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Inheritance Patterns / genetics*
  • Li-Fraumeni Syndrome / genetics
  • Li-Fraumeni Syndrome / pathology
  • Li-Fraumeni Syndrome / physiopathology
  • Neoplasms, Nerve Tissue / genetics*
  • Neurofibromatoses / genetics
  • Neurofibromatoses / pathology
  • Neurofibromatoses / physiopathology
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis / pathology
  • Tuberous Sclerosis / physiopathology
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / pathology
  • von Hippel-Lindau Disease / physiopathology