Korean Journal of Urology  2005;46(1):93-95

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

Jung Hyun KIM 1 ; Sang Hyun CHEON ; Chang Soo OH ; Young Min KIM ; Ro Jung PARK

Affiliations

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Keywords

Von Hippel-Lindau disease; Genes; Renal cell carcinoma

Country

Republic of Korea

Language

Korean

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.