Singh Shiva, Chaurasia Aditi, Gopal Nikhil, Malayeri Ashkan, Ball Mark W
Radiology and Imaging Sciences, Warren Grant Magnuson Clinical Center, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bldg. 10, 10 Center Drive, Bethesda, MD 20892, USA.
Discov Med. 2022 Nov-Dec;34(173):205-220.
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.
一部分肾肿瘤（5%-8%）与诸如冯·希佩尔-林道（VHL）综合征、伯-霍-杜综合征（BHD）、结节性硬化症（TSC）、遗传性乳头状肾癌（HPRC）、遗传性平滑肌瘤病和肾细胞癌综合征（HLRCC）以及BRCA1相关蛋白（BAP1）肿瘤易感性综合征、琥珀酸脱氢酶肾癌（SDHB/C/D）等综合征相关。这些综合征具有其特定的明确基因改变及相关的肾外表现。由于这些综合征中肿瘤的组织病理学和侵袭性各不相同，治疗策略可以从积极监测到早期手术切除。本综述阐述了最常见的家族性肾癌综合征的具体特征，并讨论了当前的治疗策略。
