title: A novel mutation in the von Hippel-Lindau tumor suppressor gene identified in a Japanese family with pheochromocytoma and hepatic hemangioma.
abstract: Von Hippel-Lindau (VHL) syndrome is a neoplastic syndrome caused by a mutation in the VHL gene. There is a discrepancy between the phenotypes of human VHL syndrome and VHL gene-disrupted mouse models. A heterozygous VHL gene-disrupted model (vhl +/-) developed hepatic vascular lesions; in contrast, hepatic hemangioma is a rare manifestation of human VHL syndrome. We identified a novel mutation (P154S) in the VHL gene in a Japanese family with pheochromocytoma. One of the members demonstrated hepatic hemangiomas, suggesting that there may be a relationship between the mutation of the VHL gene and hepatic vascular lesions, even in humans.
authors.affiliation: Division of Endocrinology/Metabolism, Neurology and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Takahashi
authors.forename: Keiji
authors.initials: K
authors.lastname: Iida
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Okimura
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Junko
authors.initials: J
authors.lastname: Naito
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nishikawa
authors.forename: Seizo
authors.initials: S
authors.lastname: Kadowaki
authors.forename: Genzo
authors.initials: G
authors.lastname: Iguchi
authors.forename: Hidesuke
authors.initials: H
authors.lastname: Kaji
authors.forename: Kazuo
authors.initials: K
authors.lastname: Chihara
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D000368:Aged; D044466:Asian People / Q000235:genetics; D006391:Hemangioma / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010375:Pedigree; D010673:Pheochromocytoma / Q000000981:diagnostic imaging / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D014057:Tomography, X-Ray Computed; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein