CNS tumor
Other tumors
Hemangioblastoma
Author: Nat Pernick, M.D.
Topic Completed: 1 January 2006
Minor changes: 29 September 2020
Copyright: 2002-2021, PathologyOutlines.com, Inc.
PubMed Search: Hemangioblastoma [title] CNS
Table of Contents
Definition / general | Case reports | Gross description | Gross images | Microscopic (histologic) description | Cytology description | Positive stains | Negative stains | Electron microscopy description | Molecular / cytogenetics images | Differential diagnosisCite this page: Pernick N. Hemangioblastoma. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/cnstumorhemangioblastoma.html. Accessed January 22nd, 2021.
Definition / general
- WHO grade I of IV (benign); slow growing and indolent but symptoms due to mass effect and peritumoral edema
- 1 - 2% of intracranial tumors
- Often in cerebellum; also spinal cord, meninges
- Either part of von Hippel-Lindau disease (25 - 30%, inherited mutation of VHL gene on 3p25-26; autosomal dominant, hemangioblastomas of cerebellum and retina, cysts of liver and pancreas, pheochromocytoma, kidney tumors) or sporadic (often with somatic mutation of VHL gene)
- Loss of VHL promotes increased production of vascular endothelial growth factor and erythropoietin
- May be associated with loss of unknown tumor suppressor gene at 22q13 (Hum Pathol 2004;35:1105)
- VHL patients often have new multiple, small, remote tumors (Brain Tumor Pathol 2004;21:75)
- Note: obtain frozen section from mural nodule, NOT cyst wall
- References: eMedicine: von Hippel-Lindau Disease {Accessed 1 August 2018]
Case reports
- 27 year old woman with cerebellar mass (University of Pittsburgh: Upper Extremity Numbness and Weakness {Accessed 1 August 2018])
- 43 year old man with cerebral tumor (Arch Pathol Lab Med 2003;127:e382)
Gross description
- Well circumscribed mural nodule (containing tumor) associated with large fluid filled cyst
Gross images
Images hosted on other servers:
Cerebellar tumor
Microscopic (histologic) description
- Proliferation of capillaries with variable sized, closely packed, thin walled vessels and large neoplastic stromal cells with pink to clear foamy cytoplasm with fine vacuoles containing PAS+ lipid
- Nuclei are hyperchromatic; cyst wall has gliosis and Rosenthal fibers (resembling pilocytic astrocytoma)
- Numerous mast cells in tumor mass (Folia Neuropathol 1999;37:138), usually no atypia
- No fibrillar cells, no necrosis and no / rare mitotic figures
Cytology description
- Nonfibrillar stromal cells with large nuclei and vacuoles
Positive stains
- Stroma is positive for NSE, lipid (at frozen section), reticulin and CD34
- Also VEGF, inhibin alpha (Am J Surg Pathol 2003;27:1152)
- Occasionally erythropoietin, GFAP and S100
Negative stains
- EMA, keratin and CD10 (Mod Pathol 2005;18:788)
Electron microscopy description
- Variable secretory granules
Molecular / cytogenetics images
Images hosted on other servers:
Idiogram of VHL mutation
Differential diagnosis
- Endocrine neoplasm (metastatic): clinical history; has endocrine cells in addition to prominent vascularity
- Fibrillary astrocytoma: at frozen section due to bursting from lipid
- Renal cell carcinoma: nuclear atypia, large nucleoli, mitotic figures, cytokeratin+, EMA+, NSE- and inhibin-
