von Hippel-Lindau disease: A clinical and scientific review

• Published in: European journal of human genetics : EJHG Vol. 19; no. 6; pp. 617 - 623
• Main Authors: MAHER, Eamonn R, NEUMANN, Hartmut Ph, RICHARD, Stephane
• Format: Journal Article
• Language: English
• Published: Basingstoke Nature Publishing Group 01.06.2011
• Subjects: Adrenal Gland Neoplasms; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); Biological and medical sciences; Biomedical research; Cancer; Carcinoma, Renal Cell - diagnosis; Carcinoma, Renal Cell - etiology; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Central nervous system; Clear cell-type renal cell carcinoma; Cysts; Endocrinopathies; Family medical history; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes, Dominant; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Germ-Line Mutation; Hemangioblastoma - diagnosis; Hemangioblastoma - etiology; Hemangioblastoma - genetics; Hemangioblastoma - pathology; Humans; Magnetic Resonance Imaging; Mass Screening; Medical genetics; Medical imaging; Medical sciences; Molecular and cellular biology; Mutation; Neoplasia; Nervous system; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Patients; Pheochromocytoma - diagnosis; Pheochromocytoma - etiology; Pheochromocytoma - genetics; Pheochromocytoma - pathology; Practical Genetics; Preventive medicine; Retina; Reviews; Tumors; VHL protein; Von Hippel-Lindau disease; von Hippel-Lindau Disease - complications; von Hippel-Lindau Disease - diagnosis; von Hippel-Lindau Disease - genetics; von Hippel-Lindau Disease - pathology; Von Hippel-Lindau Tumor Suppressor Protein - genetics; United Kingdom > UK; Eastern England; France; Endocrinopathy; Carcinoma; Pheochromocytoma; renal carcinoma; Cardiovascular disease; Review; Kidney; Secretory tumor; Vascular disease; renal cysts; Genetics; phaeochromocytoma; Benign neoplasm; VHL; Kidney disease; Nervous system diseases; Urinary system disease; Phacomatosis; Kidney cyst; Malignant tumor; von Hippel―Lindau; Von Hippel-Lindau disease; Genetic disease; Eye disease; Central nervous system disease; haemangioblastoma; Bibliographic review; Cancer
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2010.175

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.