Tumor Syndromes: Neurosurgical Evaluation and Management

Neurosurg Clin N Am. 2022 Jan;33(1):91-104. doi: 10.1016/j.nec.2021.09.007. Epub 2021 Oct 26.

Abstract

There are multiple syndromes associated with tumors of the central nervous system (CNS). The most common CNS tumor syndrome is neurofibromatosis-1, with well-defined major and minor criteria needed for diagnosis. Other syndromes with variable degree of CNS and extra-CNS involvement that the neurosurgeon should be aware of include neurofibromatosis-2; Turcot syndrome; Cowden syndrome; Gorlin syndrome; Li-Fraumeni syndrome; ataxia-telangiectasia; multiple endocrine neoplasia type 1; von Hippel-Lindau syndrome; and tuberous sclerosis complex. Although most CNS tumor syndromes follow an autosomal dominant pattern of inheritance, the genetic underpinnings of each disease are complex and increasingly better understood.

Keywords: Cowden syndrome; Gorlin syndrome; Li-Fraumeni syndrome; Neurofibromatosis; Tuberous sclerosis complex; Tumor syndrome; Turcot syndrome; von Hippel-Lindau syndrome.

Publication types

  • Review

MeSH terms

  • Brain Neoplasms*
  • Humans
  • Li-Fraumeni Syndrome* / genetics
  • Neoplastic Syndromes, Hereditary*
  • Tuberous Sclerosis*
  • von Hippel-Lindau Disease* / genetics