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Von Hippel-Lindau Disease

  • Living reference work entry
  • First Online:
Encyclopedia of Pathology

Part of the book series: Encyclopedia of Pathology ((EP))

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Synonyms

Von Hippel-Lindau syndrome; Hippel disease; Lindau disease; Angiophakomatosis retinae et cerebelli; Familial cerebello-retinal angiomatosis; Cerebelloretinal hemangioblastomatosis; Retinocerebellar angiomatosis.

Definition

Von Hippel-Lindau disease is a multisystem tumor syndrome first described by Eugen Von Hippel in 1904 (ophthalmic angiomas) and subsequently by Arvid Lindau in 1927 (cerebellar and spinal angiomas). It is classically characterized by a number of both endocrine and non-endocrine lesions including hemangioblastomas of the central nervous system and retina, clear cell renal cell carcinoma, endolymphatic sac tumor, pheochromocytomas, extra-adrenal paragangliomas, neuroendocrine tumors and cystadenomas of the pancreas, papillary cystadenomas of the broad ligament and epididymis, and ovarian steroid cell tumors. Depending on the genotypic alteration in VHL,four genotype-phenotype variants exist including Type 1 (due to deletions), as well as Types 2A, 2B, and 2C...

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References and Further Reading

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada

    Anjelica Hodgson, Sara Pakbaz & Ozgur Mete

  2. Department of Pathology, University Health Network, Toronto, ON, Canada

    Anjelica Hodgson, Sara Pakbaz & Ozgur Mete

  3. Endocrine Oncology Site, The Princess Margaret Cancer Centre, Toronto, ON, Canada

    Ozgur Mete

Authors
  1. Anjelica Hodgson
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  2. Sara Pakbaz
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  3. Ozgur Mete
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Corresponding author

Correspondence to Ozgur Mete .

Editor information

Editors and Affiliations

  1. NIJMEGEN, The Netherlands

    J.H.J.M. van Krieken

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Hodgson, A., Pakbaz, S., Mete, O. (2020). Von Hippel-Lindau Disease. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_5229-1

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  • DOI: https://doi.org/10.1007/978-3-319-28845-1_5229-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-28845-1

  • Online ISBN: 978-3-319-28845-1

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