Definition
Von Hippel–Lindau disease (VHL) is an autosomal dominant disorder characterized by pheochromocytoma (frequently bilateral), paraganglioma (rarely), retinal angiomas, cerebellar hemangioblastoma, epididymal cystadenoma, renal and pancreatic cysts, and renal cell carcinoma.
Pheochromocytoma is reported to occur in about 10 to 20% of patients with VHL. Nearly 100% of patients with VHL have an identifiable gene mutation (VHL tumor suppressor gene).
Certain missense mutations appear to be associated with a “pheochromocytoma only” presentation of VHL
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