title: Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease.
abstract: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that is associated with various tumors and cysts in the central nervous system (CNS) and visceral organs. Inactivation of the VHL tumor-suppressor protein and subsequent loss of function in the VHL, and Elongin BC (VBC) complex result in dysfunction in the ubiquitination of hypoxia-inducible factor (HIF), which is an important step in the development of angiogenic tumors. The most frequent disorders in VHL disease are hemangioblastoma in the CNS and retina, pheochromocytoma in the adrenal gland, renal cell carcinoma, and pancreatic neuroendocrine tumor. Here, we review recent ideas on the pathogenesis and clinical diagnosis and treatment of VHL disease. Progress in molecular diagnosis and molecular targeting therapy is expected for improvement in the diagnosis and treatment of this disease. The family's support for patients with VHL disease is important, being mutually helpful to overcome various social and psychological problems in the patients.
authors.affiliation: Department of Urology, Kochi Medical School, 783-8505, Kohasu, Oko-cho, Nankoku, Japan. shuint@med.kochi-u.ac.jp
authors.forename: Taro
authors.initials: T
authors.lastname: Shuin
authors.forename: Ichiro
authors.initials: I
authors.lastname: Yamazaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Tamura
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kamada
authors.forename: Shingo
authors.initials: S
authors.lastname: Ashida
mesh_terms: D020533:Angiogenesis Inhibitors / Q000627:therapeutic use; D000075065:Elongin; D006801:Humans; D012657:Self-Help Groups; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
chemical_list: D020533:Angiogenesis Inhibitors; D000075065:Elongin; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human