VON HIPPEL-LINDAU DISEASE

·         AD

·         Mutation in VHL tumor suppressor gene (3p26)

·         Characterized by-

1.       Retinal angiomas/hemangioblastomas

2.       CNS hemangioblastomas (esp. cerebellar)

3.       Pheochromocytoma

4.       Multicentric clear cell renal cysts (50% progress to clear cell carcinoma)

5.       Renal tumors-

§  Hemangioma

§  Adenoma

§  Clear cell carcinoma (most common) [60% of spontaneous clear cell carcinomas have VHL mutations)

• Periodic surveillance (yearly) by either CT/MRI