Kallinikas Georgios, Habib Helai, Tsimiliotis Dimitrios, Koutsokostas Evangelos, Bokor Barna
Department of Urology, Kent and Canterbury Hospital, Canterbury, UK.
Department of Upper G I Surgery, UCLH, London, UK.
Int Urol Nephrol. 2017 Sep;49(9):1507-1512. doi: 10.1007/s11255-017-1625-8. Epub 2017 May 31.
The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening. The scope of this article is to review which clinical manifestations should direct clinicians' thinking towards hereditary kidney carcinomas and therefore suggest which patients could benefit from genetic testing.
欧洲肾癌的患病率为2%-3%，且每年都在上升。在所有肾癌病例中，5%-8%存在遗传易感性。与肾癌相关的遗传综合征包括：冯·希佩尔-林道综合征、遗传性乳头状肾细胞癌、Birt-Hogg-Dube综合征、遗传性平滑肌瘤病、琥珀酸脱氢酶缺乏症、结节性硬化症复合体和考登综合征。这些综合征与特定的基因突变有关。到目前为止，欧洲泌尿外科学会和美国泌尿外科学会尚未制定将肾癌患者转诊进行胚系突变筛查的指南。本文的范围是回顾哪些临床表现应引导临床医生考虑遗传性肾癌，从而建议哪些患者可能从基因检测中获益。
