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Haemangioblastoma

Summary

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  • Benign, highly vascular neoplasm of the central nervous system
  • Most commonly found in the cerebellum, but can occur in the spinal cord and brainstem
  • Associated with von Hippel-Lindau (VHL) disease in 25% of cases1

Pathophysiology

  • Composed of stromal cells and abundant capillary networks
  • Stromal cells are thought to be the neoplastic component
  • VHL gene mutation leads to upregulation of hypoxia-inducible factors (HIFs) and increased angiogenesis
  • Cyst formation due to secretion of vascular endothelial growth factor (VEGF) by tumour cells

Demographics

  • Accounts for 1-2.5% of all intracranial tumours
  • Peak incidence in the 3rd to 5th decades of life
  • Slight male predominance (1.3:1)
  • 25-30% of cases are associated with VHL disease

Diagnosis

  • Clinical presentation:
    • Cerebellar signs (ataxia, dysmetria)
    • Increased intracranial pressure (headache, nausea, vomiting)
    • Visual disturbances
    • Spinal cord symptoms (if spinal involvement)
  • Laboratory findings:
    • Elevated erythropoietin levels in some cases
    • Genetic testing for VHL mutation in suspected cases

Imaging

  • CT:
    • Solid nodule with intense contrast enhancement
    • Associated cyst in 60-70% of cases
    • Calcification uncommon
  • MRI:
    • T1: Solid component isointense to hypointense
    • T2: Solid component hyperintense, cyst hyperintense
    • T1 post-contrast: Intense enhancement of solid component
    • Flow voids may be visible within the tumour
  • Angiography:
    • Highly vascular tumour with early arterial blush
    • Tumour blush persists into venous phase

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  • 45-year-old patient presented with headache.
  • MRI showed a large cystic lesion with an avidly enhancing nodule.
  • The mass effect on the outlets of the 4th ventricle caused supratentorial hydrocephalus.

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  • A 20-year-old patient presented with headache.
  • MRI showed acute hydrocephalus secondary to a large cystic lesion in the posterior fossa with an enhancing nodule.
  • A hemangioblastoma was diagnosed following resection.

Treatment

  • Surgical resection is curative; multiple or young-patient lesions should prompt screening for von Hippel-Lindau disease

Differential diagnosis

Differential Diagnosis Differentiating Feature
Metastatic renal cell carcinoma Lack of cystic component, multiple lesions, known primary tumour
Pilocytic astrocytoma Typically occurs in children, solid-cystic appearance, less vascularity
Ependymoma More common in 4th ventricle, calcifications, less enhancement
Medulloblastoma Midline cerebellar location, more common in children, dense cellularity
Choroid plexus papilloma Typically intraventricular, frond-like appearance, less vascularity
Meningioma Dural tail sign, extra-axial location, homogeneous enhancement
Paraganglioma Typically occurs at jugular foramen, "salt and pepper" appearance
Cavernous malformation Popcorn-like appearance, haemosiderin rim, lack of enhancement
Cystic schwannoma Associated with cranial nerves, eccentric enhancing nodule
Cerebellar abscess Restricted diffusion centrally on DWI; thin smooth ring enhancement; surrounding vasogenic oedema; no enhancing mural nodule

  1. Venkatesh et al. Retinal Capillary Haemangioblastoma: Clinical Spectrum, Imaging Insights, and Treatment Strategies. 2025. Ocular oncology and pathology - Open in new tab. ↩