Cystic Renal Cell Carcinoma Associated with Von Hippel-Lindau Disease Treated by Nephron Sparing Surgery / 대한비뇨기과학회지

ABSTRACT

Von Hippel-Lindau disease (VHL) is a rare, autosomal dominantly transmitted familial, hereditary disease. This disease genetically predisposes affected people to the development of some types of tumor, such as cerebellar, spinal and medullary hemangioblastomas, and retinal angiomas, renal cell carcinomas and pheochromocytomas. Herein, a case of a cystic renal cell carcinoma, accompanied by Von Hippel-Lindau disease, treated by nephron sparing surgery, is reported. The VHL gene mutation of this case was also identified.