von Hippel-Lindau disease

Medicine (Baltimore). 1997 Nov;76(6):381-91. doi: 10.1097/00005792-199711000-00001.

Abstract

von Hippel-Lindau disease is a hereditary cancer syndrome characterized by the development of vascular tumors of the central nervous system and retina, clear cell renal carcinomas, pheochromocytomas, pancreatic islet cell tumors, endolymphatic sac tumors, and benign cysts affecting a variety of organs. VHL disease is caused by germline mutations of the von Hippel-Lindau tumor suppressor gene located on chromosome 3p25. Tumor development in this setting is due to inactivation or loss of the remaining wild-type allele in a susceptible cell. The highly vascular nature of VHL-associated neoplasms can be understood in light of the recent finding that the VHL gene product (pVHL) inhibits the accumulation of hypoxia-inducible mRNAs, such as the mRNA encoding vascular endothelial growth factor (VEGF), under normoxic conditions. This property of pVHL appears to be linked to its ability to bind to complexes containing elongin B, elongin C, and cullin 2 (Cul2). Elongin C and Cul2, based on their homology with Skp1 and Cdc53, respectively, are suspected of targeting certain proteins for covalent modification with ubiquitin and hence for degradation. One model, which remains to be tested, is that the binding of pVHL to elongins B/C and Cul2 affects the ubiquitination of RNA-binding proteins that regulate the stability of hypoxia-inducible mRNAs.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cerebellar Neoplasms / genetics
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 3 / genetics
  • Ear Neoplasms / genetics
  • Endolymphatic Sac
  • Genes, Tumor Suppressor / genetics
  • Hemangioblastoma / genetics
  • Humans
  • Kidney Diseases, Cystic / genetics
  • Middle Aged
  • Neoplasm Proteins / genetics
  • Pancreatic Cyst / genetics
  • Pheochromocytoma / genetics
  • Point Mutation / genetics
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics*

Substances

  • Neoplasm Proteins