Nervous system involvement in von Hippel-Lindau disease: pathology and mechanisms

Acta Neuropathol. 2013 Mar;125(3):333-50. doi: 10.1007/s00401-013-1091-z. Epub 2013 Feb 12.

Abstract

Patients with von Hippel-Lindau disease carry a germline mutation of the Von Hippel-Lindau (VHL) tumor-suppressor gene. We discuss the molecular consequences of loss of VHL gene function and their impact on the nervous system. Dysfunction of the VHL protein causes accumulation and activation of hypoxia inducible factor (HIF) which can be demonstrated in earliest stages of tumorigenesis and is followed by expression of VEGF, erythropoietin, nitric oxide synthase and glucose transporter 1 in VHL-deficient tumor cells. HIF-independent functions of VHL, epigenetic inactivation of VHL, pVHL proteostasis, and links between loss of VHL function and developmental arrest are also described. A most intriguing feature in VHL disease is the occurrence of primary hemangioblastic tumors in the nervous system, the origin of which has not yet been entirely clarified, and current hypotheses are discussed. Endolymphatic sac tumors may extend into the brain, but originally arise from proliferation of endolymphatic duct/sac epithelium; the exact nature of the proliferating epithelial cell, however, also has remained unclear, as well as the question why tumors almost consistently develop in the intraosseous portion of the endolymphatic sac/duct only. The epitheloid clear cell morphology of both advanced hemangioblastoma and renal clear cell carcinoma can make the differential diagnosis challenging, recent developments in immunohistochemical differentiation are discussed. Finally, metastasis to brain may not only be caused by renal carcinoma, but may derive from VHL disease-associated pheochromocytoma/paraganglioma, or pancreatic neuroendocrine tumor.

Publication types

  • Review

MeSH terms

  • Animals
  • Basic Helix-Loop-Helix Transcription Factors / genetics
  • Basic Helix-Loop-Helix Transcription Factors / metabolism
  • Endolymphatic Sac / pathology
  • Hemangioblastoma / complications
  • Hemangioblastoma / etiology
  • Hemangioblastoma / pathology
  • Humans
  • Nervous System / pathology*
  • Nervous System / physiopathology
  • Nervous System Neoplasms / etiology
  • Nervous System Neoplasms / pathology*
  • Neuroimaging
  • Von Hippel-Lindau Tumor Suppressor Protein / metabolism
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / metabolism
  • von Hippel-Lindau Disease / pathology*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Von Hippel-Lindau Tumor Suppressor Protein
  • VHL protein, human