VHL

FACTS

  • mutations in tumor suppressor VHL on chromosome 3
    • propensity for angiomatosis (particularly in retina)
  • Multi-organ benign and malignant tumors (hemangioblastoma and endolymphatic sac tumors)
  • AD inheritance of VHL tumor suppressor gene on chromosome 3
  • Associations
    • polycythemia vera --> eryrhrocytosis
    • CNS hemangioblastomas
    • retinal hemangioblastomas
    • endolymphatic sac tumors
    • renal tumors
    • epididymal cystadenomas
    • pancreatic tumors
    • adrenal tumors (pheochromocytomas)

HPI

 

PHYSICAL EXAM

IMAGING

Hemangioblastoma
notion image
A/P
DDx: both VHL and HHT may have cerebral AVMs, but VHL usually in cerebellum