Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Von Hippel-Lindau Disease

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_6217-2

Synonyms

VHL

Definition

There are two major subgroups of the VHL disease: VHL type 1 mainly without and VHL type 2 mainly with pheochromocytoma presentation. The clinical features of the VHL syndrome include retinal (von Hippel) and cerebellar (Lindau) hemangioblastoma, as well as brain stem and spinal hemangioblastoma. They also include the presence of renal cysts and renal cell carcinoma, pancreatic cysts and islet cell tumors, endolymphatic sac tumors, and cysts and cystadenomas of the epididymis and broad ligament. The Von Hippel-Lindau tumor suppressor genelies on the short arm of chromosome 3 (3p25), with three exons coding for two isoforms of the protein. The mutations are spread in all three exons. Missense mutations usually confer better prognosis and are more frequently detected in patients presenting with pheochromocytoma. About 20–30 % of VHL type 2 patients develop a pheochromocytoma. The age at diagnosis is younger than in sporadic cases. They are frequently multiple,...

Keywords

Renal Cell Carcinoma Renal Cyst Pancreatic Cyst Islet Cell Tumor Broad Ligament 
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.
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See Also

  1. (2012) Hemangioblastoma. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1640. doi: 10.1007/978-3-642-16483-5_2611Google Scholar
  2. (2012) Missense mutation. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 2330. doi: 10.1007/978-3-642-16483-5_3761Google Scholar
  3. (2012) VHL. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3907. doi: 10.1007/978-3-642-16483-5_6183Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.German Cancer Research Center (DKFZ)HeidelbergGermany