Advertisement

von Hippel-Lindau Disease

  • Catherine Stolle
Chapter
  • 1.7k Downloads

Abstract

Von Hippel-Lindau disease (VHLD) is an autosomal dominant cancer predisposition syndrome that gives rise to hemangioblastomas of the brain and spine, retinal angiomas, clear cell renal cell carcinoma, pheochromocytoma, endolymphatic sac tumors, tumors of the epididymis or broad ligament, and pancreatic tumors or cysts.1 The incidence of VHLD is estimated to be about 1 in 40,000 live births in the white population. Onset is typically between the second and fourth decade of life, with penetrance for the disease nearly complete by the age of 65 years. In most cases, a family history of the disorder is apparent. In about 20% of cases, however, the proband appears to have acquired a new mutation.2

Keywords

Clear Cell Renal Cell Carcinoma Beta Globin Retinal Angioma Partial Gene Deletion Complete Gene Deletion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Glenn GM, Choyke PL, Zbar B, Linehan WM. Von Hippel-Lindau disease: clinical review and molecular genetics. Probl Urol. 1990;4:312–330.Google Scholar
  2. 2.
    Sgambati MT, Stolle C, Choyke PL, et al. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet. 2000;66:84–91.PubMedCrossRefGoogle Scholar
  3. 3.
    Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317–1320.PubMedCrossRefGoogle Scholar
  4. 4.
    Kaelin WG Jr. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer. 2002;2:673–682.PubMedCrossRefGoogle Scholar
  5. 5.
    Stebbins CE, Kaelin WG Jr, Pavletich NP. Structure of the VHLelonginC-elonginB complex: implications for VHL tumor suppressor function. Science. 1999;284:455–461.PubMedCrossRefGoogle Scholar
  6. 6.
    Zbar B, Kishida T, Chen F, et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe and Japan. Hum Mutat. 1996;8:348–357.PubMedCrossRefGoogle Scholar
  7. 7.
    Hes F, Zewald R, Peeters T, et al. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. Hum Genet. 2000;106:425–431.PubMedCrossRefGoogle Scholar
  8. 8.
    Stolle C, Glenn G, Zbar B, et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat. 1998;12:417–423.PubMedCrossRefGoogle Scholar
  9. 9.
    Hoebeeck J, van der Luijt R, Poppe B, et al. Rapid detection of VHL exon deletions using real-time quantitative PCR. Lab Invest. 2005;85:24–33.PubMedGoogle Scholar
  10. 10.
    Cotton RGH, Scriver CR. Proof of “disease causing” mutation. Hum Mutat. 1998;12:1–3.PubMedCrossRefGoogle Scholar
  11. 11.
    Beroud C, Joly D, Gallou C, Staroz F, Orfanelli MT, Junien C. Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res. 1998;26:256–258.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Catherine Stolle
    • 1
    • 2
  1. 1.Department of Pathology and Laboratory MedicineUSA
  2. 2.Molecular Genetics LaboratoryChildren’s Hospital of Philadelphia, Abramson Research CenterPhiladelphiaUSA

Personalised recommendations