Von Hippel Lindau Syndrome

Adv Exp Med Biol. 2010;685:228-49. doi: 10.1007/978-1-4419-6448-9_22.

Abstract

Von Hippel-Lindau syndrome (VHLS) is an autosomal dominant familial cancer syndrome arising from germ-line inactivation of the VHL gene on the short arm of chromosome 3. VHLS manifests in a myriad of hyper-vascular tumors of both benign and malignant nature. Incidence of VHLS is roughly 1 in 36,000 live births and has over 90% penetrance by the age of 65. Improved understanding of the natural history and biology of VHLS has led to the introduction of screening protocols, early interventions and improved treatments, all of which resulted in a substantially improved prognosis for this disease. Further details regardingvariegated molecular pathways and mechanisms ofVHLS are emerging with the subsequent advent of novel treatment protocols that are currently in clinical trials.

Publication types

  • Review

MeSH terms

  • Age Factors
  • Germ-Line Mutation*
  • Humans
  • Incidence
  • Neoplastic Syndromes, Hereditary / epidemiology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / metabolism*
  • Neoplastic Syndromes, Hereditary / pathology
  • Penetrance
  • Vascular Neoplasms / epidemiology
  • Vascular Neoplasms / genetics*
  • Vascular Neoplasms / metabolism*
  • Vascular Neoplasms / pathology
  • Vascular Neoplasms / therapy
  • Von Hippel-Lindau Tumor Suppressor Protein* / genetics
  • Von Hippel-Lindau Tumor Suppressor Protein* / metabolism
  • von Hippel-Lindau Disease / epidemiology
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / metabolism*
  • von Hippel-Lindau Disease / pathology
  • von Hippel-Lindau Disease / therapy

Substances

  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human