title: Specific immunohistochemical pattern of carbonic anhydrase IX is helpful for the diagnosis of CNS hemangioblastoma.
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.
authors.affiliation: Institute of Pathology, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Tina
authors.initials: T
authors.lastname: Schaller
authors.affiliation: Department of Neurosurgery, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Bode
authors.affiliation: Clinic of Radiology and Neuroradiology, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Ansgar
authors.initials: A
authors.lastname: Berlis
authors.affiliation: Swabian Children's Cancer Centre, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Michael C
authors.initials: MC
authors.lastname: Frühwald
authors.affiliation: Institute of Pathology, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Ines
authors.initials: I
authors.lastname: Lichtmannegger
authors.affiliation: Institute of Pathology, Klinikum Augsburg, Augsburg, Germany.
authors.forename: Katharina
authors.initials: K
authors.lastname: Endhardt
authors.affiliation: Institute of Pathology, Klinikum Augsburg, Augsburg, Germany. Electronic address: Bruno.Maerkl@klinikum-augsburg.de.
authors.forename: Bruno
authors.initials: B
authors.lastname: Märkl
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000951:Antigens, Neoplasm / Q000032:analysis / Q000096:biosynthesis*; D014408:Biomarkers, Tumor / Q000032:analysis*; D000071231:Carbonic Anhydrase IX; D002256:Carbonic Anhydrases / Q000032:analysis / Q000096:biosynthesis*; D016543:Central Nervous System Neoplasms / Q000175:diagnosis* / Q000201:enzymology; D005260:Female; D018325:Hemangioblastoma / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged
chemical_list: D000951:Antigens, Neoplasm; D014408:Biomarkers, Tumor; C089226:CA9 protein, human; D000071231:Carbonic Anhydrase IX; D002256:Carbonic Anhydrases
keywords: Carbonic anhydrase IX; Hemangioblastoma; Immunohistochemistry; Von Hippel–Lindau syndrome