Pathology, genetics and cell biology of hemangioblastomas

Histol Histopathol. 1996 Oct;11(4):1049-61.

Abstract

Hemangioblastomas are highly vascularized tumors of not well-defined histological origin which are frequently associated with cysts. They arise preferentially in cerebellum, medulla and spinal cord and are histologically indistinguishable from vascular lesions in the retina (so-called angiomatosis retinae). Hemangioblastomas are the most frequent manifestations of the von Hippel-Lindau (VHL) disease, an autosomal-dominant inherited cancer syndrome but also occur as sporadic non-hereditary tumors. The VHL tumor suppressor gene has recently been cloned and enormous progress has been made towards the understanding of molecular biology and biological function of the VHL gene. Germline mutations in VHL patients, as well as somatic mutations in different tumors, including hemangioblastomas, have been identified, its ability to act as a tumor suppressor in vivo has been confirmed, and interaction with transcription factors Elongin B and C leading to inhibition of transcriptional elongation has been demonstrated. The mechanism underlying neovascularization and cyst formation in hemangioblastomas and how this is linked to inactivation of the VHL tumor suppressor gene is not known. However, the finding of dramatic up-regulation of vascular endothelial growth factor (VEGF), a potent endothelial cell growth factor with vascular permeability-inducing activity, in stromal cells and the corresponding receptors, VEGFR-1 and VEGFR-2, in tumor endothelial cells suggests that angiogenesis and cyst formation in hemangioblastomas may be regulated by this signaling pathway via a paracrine mechanism.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain Neoplasms / blood supply
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology*
  • Brain Neoplasms / physiopathology
  • Cerebellar Neoplasms / blood supply
  • Cerebellar Neoplasms / genetics
  • Cerebellar Neoplasms / pathology
  • Cerebellar Neoplasms / physiopathology
  • DNA Methylation
  • Endothelial Growth Factors / biosynthesis
  • Endothelial Growth Factors / physiology
  • Genes, Tumor Suppressor
  • Hemangioblastoma / blood supply
  • Hemangioblastoma / genetics*
  • Hemangioblastoma / pathology*
  • Hemangioblastoma / physiopathology
  • Humans
  • Ligases*
  • Lymphokines / biosynthesis
  • Lymphokines / physiology
  • Medulla Oblongata
  • Neovascularization, Pathologic
  • Proteins / genetics
  • Spinal Cord Neoplasms / blood supply
  • Spinal Cord Neoplasms / genetics
  • Spinal Cord Neoplasms / pathology
  • Spinal Cord Neoplasms / physiopathology
  • Tumor Suppressor Proteins*
  • Ubiquitin-Protein Ligases*
  • Vascular Endothelial Growth Factor A
  • Vascular Endothelial Growth Factors
  • Von Hippel-Lindau Tumor Suppressor Protein
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / pathology

Substances

  • Endothelial Growth Factors
  • Lymphokines
  • Proteins
  • Tumor Suppressor Proteins
  • Vascular Endothelial Growth Factor A
  • Vascular Endothelial Growth Factors
  • Ubiquitin-Protein Ligases
  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ligases
  • VHL protein, human