Hemangioblastoma Intern 蔡佽學

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

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.

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

MRI

Discussion

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%)

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%

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

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.

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

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

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.

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

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

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

T1-weighted Gd-TPA MRI

T1-weighted Gd-TPA MRI of cystic hemangioblastoma

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)

Cystic astrocytoma Enhancement of cyst wall No enhancement of cyst wall

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

Stereotactic radiosurgery neurologically sensitive area multiple tumors Conventional fractionation RT

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

Thanks