title: Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.
abstract: Tumor suppressor gene "knockout" models would predict that children who present with hemangioblastoma are likely to harbor germline mutation of the von Hippel-Lindau gene. We screened 6 pediatric patients with cerebellar hemangioblastoma for germline or somatic mutations of the von Hippel-Lindau gene. Two had prior clinical manifestations of von Hippel-Lindau disease and, as expected, had germline von Hippel-Lindau gene mutations. Four children with solitary hemangioblastoma did not have a detectable germline deletion, rearrangement, or point mutation in their von Hippel-Lindau gene, and tumor specimens in 3 of these 4 showed no somatic von Hippel-Lindau allelic loss. Solitary cerebellar hemangioblastoma in children does not predict a germline or somatic mutation in the von Hippel-Lindau tumor suppressor gene. The tumorigenesis of hemangioblastoma in younger patients may differ from that in adults, and may involve a molecular process unrelated to the von Hippel-Lindau tumor suppressor pathway.
authors.affiliation: Department of Neurology, Stanford University School of Medicine, Palo Alto, CA 94305-5235, USA. pfisher@stanford.edu
authors.forename: Paul Graham
authors.initials: PG
authors.lastname: Fisher
authors.forename: Art
authors.initials: A
authors.lastname: Tontiplaphol
authors.forename: Eric M
authors.initials: EM
authors.lastname: Pearlman
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Duffner
authors.forename: Douglas J
authors.initials: DJ
authors.lastname: Hyder
authors.forename: Catherine A
authors.initials: CA
authors.lastname: Stolle
authors.forename: Alexander O
authors.initials: AO
authors.lastname: Vortmeyer
authors.forename: Zhengping
authors.initials: Z
authors.lastname: Zhuang
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016147:Genes, Tumor Suppressor; D005820:Genetic Testing; D018095:Germ-Line Mutation; D018325:Hemangioblastoma / Q000235:genetics*; D006801:Humans; D011237:Predictive Value of Tests; D006623:von Hippel-Lindau Disease / Q000235:genetics*