title: A family with von Hippel-Lindau disease revealed by pheochromocytoma.
abstract: Von Hippel-Lindau (VHL) disease is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas, central nervous system hemangioblastomas, renal cell carcinomas, pancreatic cysts and pheochromocytomas. Recently, we encountered three members of the same family who each had both VHL disease and pheochromocytoma. As in all three patients we suspected pheochromocytoma, the diagnosis of VHL disease should be considered. The possible presence of VHL disease was initially investigated in all three patients based on the presence of pheochromocytoma. A mutational analysis of the VHL gene revealed the presence of a missense mutation, consisting of a G to A transversion, at nucleotide 713 in all three patients. This germline point mutation in the VHL gene is often detected in type 2 VHL disease with pheochromocytoma. Genetic analysis seems to be useful for early detection of VHL disease, even when the formal criteria for diagnosis of this disease are lacking.
authors.affiliation: Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan. tomita@hp-gm.med.osaka-u.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Tomita
authors.forename: A
authors.initials: A
authors.lastname: Moriguchi
authors.forename: K
authors.initials: K
authors.lastname: Yamasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Taniyama
authors.forename: N
authors.initials: N
authors.lastname: Kotani
authors.forename: N
authors.initials: N
authors.lastname: Hashiya
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: M
authors.initials: M
authors.lastname: Yao
authors.forename: J
authors.initials: J
authors.lastname: Higaki
authors.forename: T
authors.initials: T
authors.lastname: Ogihara
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000209:etiology*; D000328:Adult; D001483:Base Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008025:Ligases / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human