BackgroundWe previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and interval since last colonoscopy were not correlated.MethodsThe Prospective Lynch Syndrome Database (PLSD) that records outcomes of surveillance was examined to determine survival after colon cancer in relation to the time since previous colonoscopy and pathological stage. Only path_MMR variants scored by the InSiGHT variant database as class 4 or 5 (clinically actionable) were included in the analysis.ResultsNinety-nine path_MMR carriers had no cancer prior to or at first colonoscopy, but subsequently developed colon cancer. Among these, 96 were 65 years of age or younger at diagnosis, and included 77 path_MLH1, 17 path_MSH2, and 2 path_MSH6 carriers. The number of cancers detected within < 1.5, 1.5–2.5, 2.5–3.5 and at > 3.5 years after previous colonoscopy were 9, 43, 31 and 13, respectively. Of these, 2, 8, 4 and 3 were stage III, respectively, and only one stage IV (interval 2.5–3.5 years) disease. Ten-year crude survival after colon cancer were 93, 94 and 82% for stage I, II and III disease, respectively (p < 0.001). Ten-year crude survival when the last colonoscopy had been < 1.5, 1.5–2.5, 2.5–3.5 or > 3.5 years before diagnosis, was 89, 90, 90 and 92%, respectively (p = 0.91).ConclusionsIn path_MLH1 and path_MSH2 carriers, more advanced colon cancer stage was associated with poorer survival, whereas time since previous colonoscopy was not. Although the numbers are limited, together with our previously reported findings, these results may be in conflict with the view that follow-up of path_MMR variant carriers with colonoscopy intervals of less than 3 years provides significant benefit.

中文翻译：

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Lynch 综合征中结肠癌分期和筛查间隔的存活率：前瞻性 Lynch 综合征数据库报告

背景我们之前曾报道，在致病性错配修复 (path_MMR) 变异携带者中，当结肠镜检查的频率高于每 3 年一次时，结直肠癌 (CRC) 的发病率并未降低，并且自上次结肠镜检查以来的 CRC 分期和间隔不相关。方法检查记录监测结果的前瞻性 Lynch 综合征数据库 (PLSD)，以确定结肠癌后的生存率与自之前结肠镜检查和病理阶段以来的时间之间的关系。只有被 InSiGHT 变异数据库评分为 4 或 5 级（临床上可操作）的 path_MMR 变异被包括在分析中。结果 99 名 path_MMR 携带者在结肠镜检查之前或首次结肠镜检查时没有癌症，但随后发展为结肠癌。其中，96 人在诊断时年龄在 65 岁或以下，其中包括 77 个 path_MLH1、17 个 path_MSH2 和 2 个 path_MSH6 载波。在之前的结肠镜检查后<1.5、1.5-2.5、2.5-3.5 和>3.5 年内检测到的癌症数量分别为 9、43、31 和 13。其中，2、8、4 和 3 例分别为 III 期，只有 1 例为 IV 期（间隔 2.5-3.5 年）疾病。结肠癌后 I、II 和 III 期疾病的 10 年粗生存率分别为 93%、94% 和 82%（p < 0.001）。最后一次结肠镜检查在诊断前 < 1.5、1.5-2.5、2.5-3.5 或 > 3.5 年时的 10 年粗生存率分别为 89、90、90 和 92%（p = 0.91）。结论 path_MLH1 和 path_MSH2 携带者，更晚期的结肠癌阶段与较差的生存率相关，而自上次结肠镜检查以来的时间则不然。虽然数量有限，