von Hippel-Lindau disease:  a clinical and scientific review

Eamonn R Maher; Hartmut Ph Neumann; Stéphane Richard

doi:10.1038/ejhg.2010.175

von Hippel-Lindau disease: a clinical and scientific review

Eamonn R Maher, Hartmut Ph Neumann, Stéphane Richard

Research output: Contribution to journal › Review article › peer-review

Abstract

The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

Original language	English
Pages (from-to)	617-23
Number of pages	7
Journal	European Journal of Human Genetics
Volume	19
Issue number	6
DOIs	https://doi.org/10.1038/ejhg.2010.175
Publication status	Published - 9 Mar 2011

Keywords

Adrenal Gland Neoplasms
Carcinoma, Renal Cell/diagnosis
Genes, Dominant
Genetic Predisposition to Disease
Germ-Line Mutation
Hemangioblastoma/diagnosis
Humans
Magnetic Resonance Imaging
Mass Screening
Pheochromocytoma/diagnosis
Von Hippel-Lindau Tumor Suppressor Protein/genetics
von Hippel-Lindau Disease/complications

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10.1038/ejhg.2010.175

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title = "von Hippel-Lindau disease: a clinical and scientific review",

abstract = "The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.",

keywords = "Adrenal Gland Neoplasms, Carcinoma, Renal Cell/diagnosis, Genes, Dominant, Genetic Predisposition to Disease, Germ-Line Mutation, Hemangioblastoma/diagnosis, Humans, Magnetic Resonance Imaging, Mass Screening, Pheochromocytoma/diagnosis, Von Hippel-Lindau Tumor Suppressor Protein/genetics, von Hippel-Lindau Disease/complications",

author = "Maher, {Eamonn R} and Neumann, {Hartmut Ph} and St{\'e}phane Richard",

year = "2011",

month = mar,

day = "9",

doi = "10.1038/ejhg.2010.175",

language = "English",

volume = "19",

pages = "617--23",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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T2 - a clinical and scientific review

AU - Maher, Eamonn R

AU - Neumann, Hartmut Ph

AU - Richard, Stéphane

PY - 2011/3/9

Y1 - 2011/3/9

N2 - The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

AB - The autosomal dominantly inherited disorder von Hippel-Lindau disease (VHL) is caused by germline mutations in the VHL tumour suppressor gene (TSG). VHL mutations predispose to the development of a variety of tumours (most commonly retinal and central nervous system haemangioblastomas, clear cell renal carcinoma and phaeochromocytomas). Here, we review the clinical and genetic features of VHL disease, briefly review the molecular pathogenesis and outline clinical management and tumour surveillance strategies.

KW - Adrenal Gland Neoplasms

KW - Carcinoma, Renal Cell/diagnosis

KW - Genes, Dominant

KW - Genetic Predisposition to Disease

KW - Germ-Line Mutation

KW - Hemangioblastoma/diagnosis

KW - Humans

KW - Magnetic Resonance Imaging

KW - Mass Screening

KW - Pheochromocytoma/diagnosis

KW - Von Hippel-Lindau Tumor Suppressor Protein/genetics

KW - von Hippel-Lindau Disease/complications

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DO - 10.1038/ejhg.2010.175

M3 - Review article

C2 - 21386872

SN - 1018-4813

VL - 19

SP - 617

EP - 623

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 6

ER -

von Hippel-Lindau disease: a clinical and scientific review

Abstract

Keywords

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