Hemangioblastoma

1. Hemangioblastoma Intern 蔡佽學

2. Information • Name: 李x珠 • Sex: female • Age: 49 • C.C: Headache and vomiting was noted for half year

3. Brief history • Headache and dizziness was noted for 8months. • In about 3-4 months ago, nausea/vomiting were also noted. • In 市立H., brain MRI was done and showed hydrocephalus and about 2*2 mass on right hemicerebellum.

4. PE/NE: no specific findings • Family history: non-contributory • Lab: hyperglycemia

5. MRI

8. Discussion

9. Introduction • Benign, slowly growing vascular neoplasm • 4 % of all intracranial neoplasms • most common primary intraaxial tumor in adult posterior fossa • sporadically or associated with von Hippel-Lindau (VHL) disease (25%)

10. Age adulthood (>80%): 20-50 years, average age of 33 years; M > F childhood (<20%): in von Hippel-Lindau disease (25%); girls • Location: paravermian cerebellar hemisphere > spinal cord > cerebral hemisphere / brainstem • Multiple lesions in 10%

11. VHL disease • An autosomal dominant disorder caused by a deletion in chromosome 3 (3p) • Mutation of tumor supressor gene overexpression of VEGF  highlyvascularized tumors • occurs in 1:36-45,000 population

13. Symptoms • Depend on the site of the hemangioblastoma • Infratentorial: Headache is the most frequent NE is often normal or shows cerebellar signs • Spinal : Paresthesia and/or pain Sensory or motor loss • Brainstem: orthostatic hypotension.

14. Hydrocephalus due to obstruction of fourth ventricle from mass effect • Classic polycythemia in 20% of cerebellar hemangioblastomas. • Subarachnoid or intra-axial hemorrhage occur in only a few cases • Hormone-mediated growth phenomenon

15. Pathology Two cell populations: • Endothelial cells - dense network of small vascular channels with thin lining • Stromal cells - exhibit some hyperchromasia and pleomorphism - classically lipidized features - usually no necrosis or mitotic activity - well-dermacated and not infiltrative

16. A classic picture of hemangioblastoma in situ, with engorged, numerous arteries and draining veins leading to and from a well-circumscribed and highly vascular tumor visible at the pial surface.

18. Image • MRI is much more sensitive than CT • CT: Cystic sharply marginated mass with peripheral mural nodule with homogeneous enhancement Solid with intense homogeneous enhancement

20. MRI • hypointense areas on T1WI + hyperintense areas on T2WI in cyst formation • well-demarcated tumor mass moderately hypointense on T1WI + T2WI • heterogenous enhancement after injection of Gd-TPA

21. Angio: densely stained tumor nidus within cyst staining of entire rim of cyst draining vein

22. T1-weighted Gd-TPA MRI

23. T1-weighted Gd-TPA MRI of cystic hemangioblastoma

24. Differential diagnosis • Cystic astrocytoma >5 cm, calcifications, larger nodule, thick-walled lesion, no angiographic contrast blush of mural nodule, no erythrocythemia • Arachnoid cyst (if mural nodule not visualized) • Metastasis (more surrounding edema)

25. Cystic astrocytoma Enhancement of cyst wall No enhancement of cyst wall

26. Treatment • Surgery may be curative in sporadic cases • For large lesions, embolization of feeding arteries is typically performed • Timing : tumor growth, neurologic deficit, or hemorrhage

27. Stereotactic radiosurgery neurologically sensitive area multiple tumors • Conventional fractionation RT

28. Prognosis • Low recurrence risk if total resection • Worse prognosis in VHL • Need to screen for mutation if young person with hemangioblastoma VHL : • Median life expectancy is 49 years • Death usually related to CNS hemangioblastoma or renal cell carcinoma

29. Thanks