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 O. Vortmeyer, Zhengping Zhuang

Research output: Contribution to journalArticle

9 Scopus citations

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

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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., Vortmeyer, A. O., & 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