Pradere Benjamin, Lotan Yair, Roupret Morgan
aDepartment of Urology, CHRU Tours, Faculté de Médecine François Rabelais, Tours, Loire Valley, France bDepartment of Urology, University of Texas Southwestern Medical Center, Dallas, Texas, USA cDepartment of Urology, Pitié-Salpétrière, Assistance-Publique Hôpitaux de Paris, Faculté de Médecine Pierre et Marie Curie, University Paris 6, Paris, France.
Curr Opin Urol. 2017 Jan;27(1):48-55. doi: 10.1097/MOU.0000000000000340.
Lynch syndrome is a genetic syndrome that integrates a large spectrum of cancers caused by germline mutations in mismatch repair genes. Its incidence is underestimated due to a lack of systematic screening in the population. Because upper tract urothelial carcinoma is the third-most common cancer associated with the syndrome, urologists should be aware of the diagnostic pathway.
Lynch syndrome can be positively diagnosed after the three following distinct steps: meeting the clinical criteria, tissue and genetic testing, and familial genetic counseling. It must be suspected for patients with upper tract urothelial carcinoma before the age of 60 years and in cases of evocative personal/familial medical histories. When a diagnosis is suspected, immunohistochemistry and Polymerase Chain Reaction are the next steps to confirm the diagnosis. After confirmation, the key to management is a good surveillance to prevent disease recurrence using urinary analysis and imaging as well as screening of first-degree relatives.
Despite the lack of high-level studies of upper tract urothelial carcinoma in Lynch syndrome, its prevalence is not negligible. Thus, expert recommendations are required for its management. Individuals and family should be informed of the importance of close screening and surveillance.
林奇综合征是一种遗传性综合征，由错配修复基因的种系突变引发多种癌症。由于人群中缺乏系统筛查，其发病率被低估。上尿路尿路上皮癌是与该综合征相关的第三大常见癌症，泌尿外科医生应了解其诊断途径。
林奇综合征可通过以下三个不同步骤确诊：符合临床标准、组织和基因检测以及家族遗传咨询。对于60岁以下的上尿路尿路上皮癌患者以及有提示性个人/家族病史的患者，必须怀疑该病。当怀疑诊断时，免疫组织化学和聚合酶链反应是下一步确认诊断的方法。确诊后，管理的关键是通过尿液分析和影像学检查以及对一级亲属进行筛查进行良好的监测，以预防疾病复发。
尽管缺乏关于林奇综合征中上尿路尿路上皮癌的高级别研究，但其患病率不可忽视。因此，其管理需要专家建议。个人和家庭应被告知密切筛查和监测的重要性。
