Somatic mosaicism in von Hippel-Lindau Disease

Hum Mutat. 2000 Jan;15(1):114. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7.


von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von Hippel-Lindau disease. Mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.

Publication types

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

MeSH terms

  • Adult
  • Cerebellar Neoplasms / diagnosis
  • Female
  • Genes, Tumor Suppressor / genetics
  • Hemangioblastoma / diagnosis
  • Hemangioma / diagnosis
  • Humans
  • Kidney Diseases, Cystic / diagnosis
  • Ligases*
  • Male
  • Middle Aged
  • Mosaicism*
  • Mutation
  • Neoplasms, Multiple Primary / diagnosis
  • Pedigree
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Retinal Neoplasms / diagnosis
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / classification
  • von Hippel-Lindau Disease / genetics*


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