Specific immunohistochemical pattern of carbonic anhydrase IX is helpful for the diagnosis of CNS hemangioblastoma

Pathol Res Pract. 2015 Jul;211(7):513-20. doi: 10.1016/j.prp.2015.03.003. Epub 2015 Apr 1.

Abstract

Hemangioblastomas are rare capillary-rich tumors predominantly found in the CNS. The histological appearance of these tumors varies across a broad spectrum. Several entities show considerable histomorphological similarities to hemangioblastomas. Therefore, morphological evaluation can be challenging. In this study, we evaluated the diagnostic utility of immunohistochemistry using antibodies against carbonic anhydrase IX and cytokeratin staining. Within our files, we identified 20 hemangioblastomas. A collection of 46 other tumors relevant to the differential diagnosis (12 pilocytic astrocytomas, 11 meningiomas, one pleomorphic xanthoastrocytoma, one angiomatous fibrous histiocytoma, 14 carcinoma metastases and seven gliomas grades II-IX) served as control. The pattern of strong, diffuse expression of carbonic anhydrase IX with membranous accentuation in combination with keratin negativity was considered diagnostic for hemangioblastomas. It was found in 18 out of 20 (90%) hemangioblastomas and in none of the control cases (P < 0.001). This resulted in a sensitivity of 90% and a specificity of 100%. The positive and negative predictive values were 100% and 96%, respectively. Carbonic anhydrase IX with cytokeratin is thus a highly sensitive and specific marker combination for hemangioblastomas. It is therefore very helpful in the diagnosis of these tumors and in their discrimination from other entities.

Keywords: Carbonic anhydrase IX; Hemangioblastoma; Immunohistochemistry; Von Hippel–Lindau syndrome.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antigens, Neoplasm / analysis
  • Antigens, Neoplasm / biosynthesis*
  • Biomarkers, Tumor / analysis*
  • Carbonic Anhydrase IX
  • Carbonic Anhydrases / analysis
  • Carbonic Anhydrases / biosynthesis*
  • Central Nervous System Neoplasms / diagnosis*
  • Central Nervous System Neoplasms / enzymology
  • Female
  • Hemangioblastoma / diagnosis*
  • Hemangioblastoma / enzymology
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged

Substances

  • Antigens, Neoplasm
  • Biomarkers, Tumor
  • CA9 protein, human
  • Carbonic Anhydrase IX
  • Carbonic Anhydrases