Department of Clinical Epidemiology Department of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.
Clin Genet. 2012 Nov;82(5):439-45. doi: 10.1111/j.1399-0004.2011.01802.x. Epub 2011 Nov 15.
The lifetime risk of developing colorectal cancer (CRC) in Lynch syndrome (LS) carriers is very high. To determine the impact of colonoscopic screening in 54 male and 98 female MSH2 mutation carriers, outcomes were compared with 94 males and 76 females who were not screened. CRC incidence and survival in the screened group were compared to that expected, derived from the non-screened group. To correct for survivor bias, controls were matched for age at entry into screening and also for gender. In males, median age to CRC was 58 years, whereas expected was 47 years (p = 0.000), and median survival was 66 years vs 62 years (p = 0.034). In screened females, median age to CRC was 79 years compared to 57 years in the non-screened group (p = 0.000), and median survival was 80 years compared with expected of 63 years (p = 0.001). Twenty percent of males and 7% of females developed an interval CRC within 2 years of previous colonoscopy. Although colonoscopic screening was associated with decreased CRC risk and better survival, CRCs continued to occur. CRC development may be further reduced by decreasing the screening interval to 1 year and improving quality of colonoscopy.
林奇综合征（LS）携带者发生结直肠癌（CRC）的终生风险非常高。为了确定结肠镜筛查对 54 名男性和 98 名女性 MSH2 突变携带者的影响，将结果与未接受筛查的 94 名男性和 76 名女性进行了比较。筛查组的 CRC 发病率和生存率与未筛查组预期的结果进行了比较。为了纠正幸存者偏差，对对照组进行了年龄匹配（进入筛查时的年龄）和性别匹配。在男性中，CRC 的中位年龄为 58 岁，而预期年龄为 47 岁（p=0.000），中位生存期为 66 岁，而 62 岁（p=0.034）。在接受筛查的女性中，CRC 的中位年龄为 79 岁，而未接受筛查的女性为 57 岁（p=0.000），中位生存期为 80 岁，而预期为 63 岁（p=0.001）。20%的男性和 7%的女性在结肠镜检查后的 2 年内发生了间隔性 CRC。尽管结肠镜筛查与降低 CRC 风险和提高生存率有关，但 CRC 仍在继续发生。通过将筛查间隔缩短至 1 年并提高结肠镜检查的质量，可能进一步降低 CRC 的发生。
