Paul Graham Fisher

Publication Details

  • Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Landau tumor suppressor gene Fisher, P. G., Tontiplaphol, A., Pearlman, E. M., Duffner, P. K., Hyder, D. J., Stolle, C. A., Vortmeyer, A. O., Zhuang, Z. P. WILEY-LISS. 2002: 257-260

    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.

    View details for DOI 10.1002/ana.10107

    View details for Web of Science ID 000173636200017

    View details for PubMedID 11835384

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