von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease

A. O. Vortmeyer, J. R. Gnarra, M. R. Emmert-Buck, D. Katz, W. M. Linehan, E. H. Oldfield, Z. Zhuang

Research output: Contribution to journalArticle

162 Scopus citations

Abstract

Central nervous system hemangioblastoma is a neoplasm with characteristic and well-described histopathological features, including proliferation of vascular and stromal cells. Yet, the histogenesis of the stromal cell component and its neoplastic capacity as compared with the vascular component are still controversial. Stromal cells were selectively procured from formalin-fixed, paraffin-embedded archival tissue from a von Hippel-Lindau (VHL) disease patient with a cerebellar hemangioblastoma and studied for loss of heterozygosity (LOH) of the VHL gene locus and associated microsatellite regions. The stromal cells consistently showed LOH. Analysis of mixed stromal and vascular areas of this tumor and four other hemangioblastomas of VHL patients showed that loss of heterozygosity was partially obscured. These preliminary results suggest that the stromal component of hemangioblastomas contains genetic alterations consistent with a neoplastic nature. Additional samples of pure stromal cells need to be analyzed to establish the prevalence of VHL gene deletion in stromal cells of capillary hemangioblastoma and, hence, its pathogenetic significance.

Original languageEnglish (US)
Pages (from-to)540-543
Number of pages4
JournalHuman pathology
Volume28
Issue number5
DOIs
StatePublished - 1997
Externally publishedYes

Keywords

  • VHL gene
  • hemangioblastoma
  • logs of heterozygosity
  • tissue microdissection

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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