Extraneuraxial Hemangioblastoma: An Unusual Soft Tissue Neoplasm that Mimics More Common Entities but Carries Distinct Clinical Implications

Int J Surg Pathol. 2023 Jun;31(4):419-426. doi: 10.1177/10668969221102560. Epub 2022 Jun 1.


Hemangioblastoma, one of the characteristic tumors associated with Von Hippel-Lindau (VHL) disease, most often presents in the central nervous system (CNS) but can uncommonly arise in extraneuraxial, or previously referred to as peripheral, locations. Without the clinical context of known VHL disease, hemangioblastoma may not enter the differential for a soft tissue mass outside the CNS. Here, we present two patients with diagnostically challenging extraneuraxial hemangioblastoma to highlight the importance of considering this entity within the differential diagnosis of soft tissue neoplasms containing clear cells and delicate vasculature. We review the relevant diagnostic features, including a suggested immunohistochemical panel, along with the potential associated clinical implications of making this diagnosis. It is recommended that affected patients be offered genetic counseling to assess for underlying VHL disease.

Keywords: Hemangioblastoma; VHL; Von Hippel-Lindau disease; extraneuraxial hemangioblastoma; immunohistochemistry; peripheral hemangioblastoma; soft tissue tumor.

Publication types

  • Review

MeSH terms

  • Hemangioblastoma* / diagnosis
  • Hemangioblastoma* / pathology
  • Humans
  • Soft Tissue Neoplasms* / diagnosis
  • von Hippel-Lindau Disease* / complications
  • von Hippel-Lindau Disease* / diagnosis
  • von Hippel-Lindau Disease* / genetics