Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene

Paul Graham Fisher, Art Tontiplaphol, Eric M. Pearlman, Patricia K. Duffner, Douglas J. Hyder, Catherine A. Stolle, Alexander Vortmeyer, Zhengping Zhuang

Research output: Contribution to journalArticle

9 Citations (Scopus)

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-Landau 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-Landau gene, and tumor specimens in 3 of these 4 showed no somatic von Hippel-Landau allelic loss. Solitary cerebellar hemangioblastoma in children does not predict a germline or somatic mutation in the von Hippel-Landau 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.

Original languageEnglish (US)
Pages (from-to)257-260
Number of pages4
JournalAnnals of Neurology
Volume51
Issue number2
DOIs
StatePublished - Feb 11 2002
Externally publishedYes

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Hemangioblastoma
Tumor Suppressor Genes
Mutation
Genes
von Hippel-Lindau Disease
Gene Knockout Techniques
Germ-Line Mutation
Sequence Deletion
Loss of Heterozygosity
Point Mutation
Neoplasms
Carcinogenesis
Pediatrics

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Fisher, P. G., Tontiplaphol, A., Pearlman, E. M., Duffner, P. K., Hyder, D. J., Stolle, C. A., ... Zhuang, Z. (2002). Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene. Annals of Neurology, 51(2), 257-260. https://doi.org/10.1002/ana.10107

Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene. / Fisher, Paul Graham; Tontiplaphol, Art; Pearlman, Eric M.; Duffner, Patricia K.; Hyder, Douglas J.; Stolle, Catherine A.; Vortmeyer, Alexander; Zhuang, Zhengping.

In: Annals of Neurology, Vol. 51, No. 2, 11.02.2002, p. 257-260.

Research output: Contribution to journalArticle

Fisher, Paul Graham ; Tontiplaphol, Art ; Pearlman, Eric M. ; Duffner, Patricia K. ; Hyder, Douglas J. ; Stolle, Catherine A. ; Vortmeyer, Alexander ; Zhuang, Zhengping. / Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene. In: Annals of Neurology. 2002 ; Vol. 51, No. 2. pp. 257-260.
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