von Hippel-Lindau disease: A clinical and scientific review

被引：440

作者：

Maher, Eamonn R. ^{[1
,2
,3
]}

Neumann, Hartmut P. H. ^{[4
]}

Richard, Stephane ^{[5
,6
,7
]}

机构：

[1] Univ Birmingham, Coll Med & Dent Sci, Ctr Rare Dis & Personalised Med,Clin Genet Unit, Sect Med & Mol Genet,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England

[2] Univ Birmingham, Coll Med & Dent Sci, Sch Clin & Expt Med, Dept Med & Mol Genet,Inst Biomed Res, Birmingham B15 2TT, W Midlands, England

[3] Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England

[4] Univ Freiburg, Univ Med Ctr, Sect Prevent Med, Dept Nephrol, Freiburg, Germany

[5] Hop Bicetre, AP HP, Serv Urol, Ctr Reference Canc Rares INCa PREDIR & Reseau Nat, Le Kremlin Bicetre, France

[6] Inst Cancerol Gustave Roussy, INSERM, U753, Genet Oncol EPHE, Villejuif, France

[7] Fac Med Paris Sud, Le Kremlin Bicetre, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 06期

关键词：

VHL; von Hippel-Lindau; haemangioblastoma; renal carcinoma; phaeochromocytoma; renal cysts; RENAL-CELL CARCINOMA; TUMOR-SUPPRESSOR GENE; GENOTYPE-PHENOTYPE CORRELATIONS; ENDOCRINE NEOPLASIA TYPE-2; RECEPTOR INHIBITOR SU5416; ENDOLYMPHATIC SAC TUMORS; CENTRAL-NERVOUS-SYSTEM; NATURAL-HISTORY; SPARING SURGERY; RETINAL HEMANGIOBLASTOMA;

D O I：

10.1038/ejhg.2010.175

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：617 / 623

页数：7

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