title: Meningioma showing VHL gene inactivation in a patient with von Hippel-Lindau disease.
abstract: The genetic mechanism of the tumorigenesis of meningioma in conjunction with von Hippel-Lindau (VHL) disease is unclear. The authors present a case of VHL disease associated with a posterior fossa meningioma and with multiple cerebellar hemangioblastomas. A germline mutation of the VHL gene and loss of heterozygosity on the VHL gene locus in 3p were detected in the meningioma. Tumorigenesis of a meningioma associated with VHL disease could be caused by inactivation of both alleles of the VHL gene.
authors.affiliation: Department of Neurosurgery, Yokohama City University School of Medicine, Japan. kanno@med.yokohama-cu.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Kanno
authors.forename: I
authors.initials: I
authors.lastname: Yamamoto
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: H
authors.initials: H
authors.lastname: Kitamura
mesh_terms: D000368:Aged; D002292:Carcinoma, Renal Cell / Q000175:diagnosis* / Q000601:surgery; D002528:Cerebellar Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000209:etiology; D018450:Disease Progression; D017809:Fatal Outcome; D005682:Gadolinium; D020233:Gait Disorders, Neurologic / Q000209:etiology; D018095:Germ-Line Mutation / Q000235:genetics; D018325:Hemangioblastoma / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008025:Ligases / Q000172:deficiency / Q000235:genetics*; D019656:Loss of Heterozygosity; D008279:Magnetic Resonance Imaging; D008297:Male; D008579:Meningioma / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009364:Neoplasm Recurrence, Local; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016518:Neurofibromatosis 2 / Q000235:genetics; D013064:Speech Disorders / Q000209:etiology; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications*
chemical_list: D025521:Tumor Suppressor Proteins; D005682:Gadolinium; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human