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Haeangioblastoma

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 cases

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 the primary treatment
    • Complete resection is curative in most cases
    • Preoperative embolization may reduce intraoperative bleeding
  • Stereotactic radiosurgery for small, deep-seated tumours
  • Regular follow-up imaging to detect recurrence or new lesions
  • Systemic therapy:
    • Tyrosine kinase inhibitors (e.g., pazopanib) for multiple or unresectable tumours
  • Genetic counseling and screening for VHL disease in appropriate cases

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