METHODS: This retrospective multicenter study was conducted in Japan. CRCs and advanced adenomas (AAs) in 316 LS cases with germline pathogenic variants (path_) were analyzed according to the data of 1,756 registered CS.
RESULTS: The mean time interval for advanced CRCs (ACs) detected via CS surveillance was 28.7 months (95% confidence interval: 13.8-43.5). The rate of AC detection within (2.1%) and beyond 2 years (8.7%) differed significantly (p = 0.0003). AAs accounted for 43%, 46%, and 41% of lesions < 10 mm in size in the MLH1-, MSH2-, and MSH6-groups, respectively. The lifetime incidence of metachronous CRCs requiring intestinal resection for path_MLH1, path_MSH2, and path_MSH6 cases was 34%, 23%, and 14% in these cases, respectively. The cumulative CRC incidence showed a trend towards a 10-year delay for path_MSH6 cases as compared with that for path_MLH1 and path_MSH2 cases.
CONCLUSIONS: In cases with path_MLH1, path_MSH2, and path_MSH6, maintaining an appropriate CS surveillance interval of within 2 years is advisable to detect of the colorectal lesion amenable to endoscopic treatment. path_MSH6 cases could be stratified with path_MLH1 and MSH2 cases in terms of risk of metachronous CRC and age of onset.
方法:这项回顾性多中心研究在日本进行。根据1,756例注册CS的数据分析了316例具有种系致病性变异(path_)的LS患者的CRC和晚期腺瘤(AAs)。
结果:通过CS监测检测到的晚期CRC(AC)的平均时间间隔为28.7个月(95%置信区间:13.8-43.5)。在2年内(2.1%)和超过2年(8.7%)的AC检测率存在显着差异(p=0.0003)。AA占43%,46%,在MLH1-中,41%的病变大小<10毫米,MSH2-,和MSH6组,分别。路径_MLH1,路径_MSH2和路径_MSH6病例需要肠切除的异时CRC的终生发生率为34%,23%,在这些情况下,有14%的人,分别。与path_MLH1和path_MSH2病例相比,path_MSH6病例的累积CRC发生率显示出延迟10年的趋势。
结论:对于path_MLH1、path_MSH2和path_MSH6的病例,建议在2年内保持适当的CS监测间隔,以检测适合内镜治疗的结直肠病变。path_MSH6病例可与path_MLH1和MSH2病例在异时CRC风险和发病年龄方面进行分层。