Hemangioblastoma and Von Hippel-Lindau disease

Abstract

Hemangioblastoma (HB) is an infrequent, benign (WHO grade I), highly vascular, well-demarcated, slowly growing, solid, or cystic neoplasm of unspecifi ed cellular origin [1]. It is confined to the central nervous system (CNS), the brain, spinal cord, and retina, rarely occurring in the nerve roots or peripheral nerves. HB accounts for about 10% of tumors of the posterior fossa, the site of its predilection, but only about 2% of all intracranial tumors. HB of the retina [1, 14, 19], originating from the inner mid-peripheral retina, is histologically identical to HB elsewhere in the CNS. Some 20% of HBs (up to 50% of retinal HBs) may be associated with Von Hippel-Lindau disease (VHL), but estimates are inaccurate because not all patients are screened for the mutations and other manifestations of VHL [1, 6, 10, 15, 20]. VHL-related HBs occur at 20-30 years of age and sporadic ones at 40-50 years. © 2010 Springer-Verlag Berlin Heidelberg.