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Encyclopedia of Cancer pp 1Cite as

Von Hippel-Lindau Disease

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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,...

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See Also

  • (2012) Hemangioblastoma. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 1640. doi: 10.1007/978-3-642-16483-5_2611

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  • (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_3761

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  • (2012) VHL. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, p 3907. doi: 10.1007/978-3-642-16483-5_6183

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Authors and Affiliations

  1. German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Manfred Schwab

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  1. Manfred Schwab
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Correspondence to Manfred Schwab .

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Editors and Affiliations

  1. Abt. Tumorgenetik, Deutsches Krebsforschungszentrum, Heidelberg, Germany

    Manfred Schwab

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Schwab, M. (2015). Von Hippel-Lindau Disease. In: Schwab, M. (eds) Encyclopedia of Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27841-9_6217-2

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  • DOI: https://doi.org/10.1007/978-3-642-27841-9_6217-2

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-27841-9

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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