SDHB系统
结节性硬化
Birt-Hogg-Dubé综合征
肾癌
医学
BAP1型
肾细胞癌
癌症
平滑肌瘤病
延胡索酶
病理
肾
肿瘤科
内科学
种系突变
突变
生物
外科
遗传学
基因
平滑肌瘤
气胸
作者
Shiva M. Singh,Pooja Chaudhary,Nikhil Gopal,Ashkan A. Malayeri,Mark W. Ball
出处
期刊:PubMed
日期:2023-01-06
卷期号:34 (173): 205-220
被引量:8
摘要
A subset of renal tumors (5-8%) are associated with syndromes such as von Hippel-Lindau (VHL) syndrome, Birt-Hogg-Dubé syndrome (BHD), tuberous sclerosis complex (TSC), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC), and BRCA1 associated protein (BAP1) tumor predisposition syndrome, succinate dehydrogenase RCC (SDHB/C/D). These syndromes have their specific defined genetic alterations and associated extrarenal manifestations. Due to varying histopathology and aggressiveness of the tumors amongst these syndromes, the management strategies can range from active surveillance to upfront surgical resection. This review delineates specific characteristics of the most common familial renal cancer syndromes and discusses current management strategies.
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