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

Hum Pathol. 1997 May;28(5):540-3. doi: 10.1016/s0046-8177(97)90075-7.

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 anti 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.

MeSH terms

  • Cerebellar Neoplasms / complications
  • Cerebellar Neoplasms / genetics*
  • Cerebellar Neoplasms / pathology
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics*
  • Hemangioblastoma / complications
  • Hemangioblastoma / genetics*
  • Hemangioblastoma / pathology
  • Heterozygote
  • Humans
  • Ligases*
  • Proteins / genetics*
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / genetics*
  • von Hippel-Lindau Disease / pathology

Substances

  • Proteins
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human