Hemangioblastoma- Von Hippel Lindau Syndrome

nClinical

nAD inheritance, M=F, young adults

nHemangioblastomas (HGBL), clear cell renal carcinoma (CCRCA), cystadenomas, pheochromocytoma, pancreatic cysts and islet cell tumors, epididymal cysts, endolymphatic sac tumors

nDx criteria- HGBL in CNS or retina and one of other tumors or family hx

nMost common cause of death- CCRCA

nPhenotypes

n1- no pheo, 2A- pheo and CCRCA, 2B- pheo and no CCRCA

nImaging

nRetinal detachment/hemorrhage (ocular angioma- 75% of VHL gene carriers)

n2 or more HGBL, hypervascular, flow voids, AV shunting

nCord (50%), cerebellum (40%), brainstem (10%), supratentorial (1%)

nCyst wall is non-neoplastic, cystic more symptomatic than solid

nMural nodule abuts pial surface (unlike pilocytic astro)

nImportant point- solitary HGBL more common without VHL

n25-40% of HGBL occur in VHL- therefore 60-75% occur without VHL

nVery rare- disseminated/multiple HGBL wo VHL

(condensed from DI:Brain, Osborne, Amirsys 2004 pp I:1 86-88)