Management of solid renal tumour associated with von Hippel-Lindau disease  

作　　者：ZHANG Jin HUANG Yi-ran LIU Dong-ming ZHOU Li-xin XUE Wei CHEN Qi DONG Bai-jun PAN Jia-hua XUAN Han-qing 

机构地区：[1]Department of Urology, Renji Hospital, Shanghai Jiaotong University Medical School, Shanghai 200127, China

出　　处：《Chinese Medical Journal》2007年第22期2049-2052,共4页中华医学杂志（英文版）

基　　金：This study was supported by a grant from the Doctoral Foundation of Shanghai Jiaotong University Medical School(No.BXJ0615)

摘　　要：Von Hippel-Lindau （VHL） disease is a rare autosomal dominant disorder caused by germ line mutations of the VHL tumour suppressor gene. it predisposes affected individuals to develop a variety of neoplasms, including haemangioblastomas of the central nervous system, retinal angiomas, renal cell carcinomas （RCCs）, pheochromocytomas and cysts of the kidneys and epididymis. Germ line VHL mutations have been found in all VHL disease families. RCC occurs in 25% to 45% of patients with VHL disease and is one of the leading causes of death.Von Hippel-Lindau （VHL） disease is a rare autosomal dominant disorder caused by germ line mutations of the VHL tumour suppressor gene. it predisposes affected individuals to develop a variety of neoplasms, including haemangioblastomas of the central nervous system, retinal angiomas, renal cell carcinomas （RCCs）, pheochromocytomas and cysts of the kidneys and epididymis. Germ line VHL mutations have been found in all VHL disease families. RCC occurs in 25% to 45% of patients with VHL disease and is one of the leading causes of death.

关 键 词：Hippel-Lindau disease germ line mutation renal cell carcinoma nephron -sparing surgery 

分 类 号：R737.11[医药卫生—肿瘤]