Zane Cohen Centre, Sinai Health System and Faculty of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Department of Surgery, University of Toronto, Toronto, ON, Canada.
J Natl Cancer Inst. 2023 Jul 6;115(7):778-787. doi: 10.1093/jnci/djad058.
Lynch syndrome (LS) screening guidelines originally recommended colonoscopy every 1 to 2 years, beginning between the ages of 20 and 25 years. Recent studies have questioned the benefits of these short screening intervals in preventing colorectal cancer (CRC). Our goal is to determine how colonoscopy screening intervals impact CRC in patients with LS.
We analyzed the demographics, screening practices, and outcomes of patients with LS identified through the clinic based Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre, Sinai Health System, Toronto, Canada.
A total of 429 patients with LS were identified with median follow-up of 9.2 years; 44 developed CRC. We found a positive trend between shorter screening intervals and the number of adenomas detected during colonoscopy. Any new adenoma detected at screening decreased 10-year CRC incidence by 11.3%. For MLH1 carriers, a screening interval of 1-2 years vs 2-3 years led to a 20-year cumulative CRC risk reduction of 28% and 14% in females and males, respectively. For MSH2 carriers, this risk reduction was 29% and 17%, respectively, and for male MSH6 carriers 18%. Individuals without any adenomas detected (53.4% of LS carriers) had an increased 20-year CRC risk of 25.7% and 57.2% for women and men, respectively, compared with those diagnosed with adenomas at screening.
The recommended colonoscopy screening interval of 1-2 years is efficient at detecting adenomas and reducing CRC risk. The observation that 53.4% of LS patients never had an adenoma warrants further investigation about a possible adenoma-free pathway.
林奇综合征 (LS) 筛查指南最初建议在 20 至 25 岁之间，每 1 至 2 年进行一次结肠镜检查。最近的研究质疑了这些短间隔筛查在预防结直肠癌 (CRC) 方面的益处。我们的目标是确定 LS 患者的结肠镜检查间隔如何影响 CRC。
我们分析了通过加拿大安大略省多伦多 Sinai 卫生系统 Zane Cohen 中心基于诊所的家族胃肠道癌症登记处确定的 LS 患者的人口统计学、筛查实践和结局。
共确定了 429 例 LS 患者，中位随访时间为 9.2 年；44 例患者发生 CRC。我们发现较短的筛查间隔与结肠镜检查期间发现的腺瘤数量之间存在正相关趋势。筛查时发现任何新的腺瘤可使 10 年 CRC 发病率降低 11.3%。对于 MLH1 携带者，筛查间隔 1-2 年与 2-3 年相比，女性和男性的 20 年 CRC 累积风险分别降低 28%和 14%。对于 MSH2 携带者，风险降低分别为 29%和 17%，而男性 MSH6 携带者为 18%。未发现任何腺瘤的个体（LS 携带者的 53.4%）与筛查时诊断出腺瘤的个体相比，女性和男性的 20 年 CRC 风险分别增加了 25.7%和 57.2%。
建议的 1-2 年结肠镜检查筛查间隔可有效检测腺瘤并降低 CRC 风险。观察到 53.4%的 LS 患者从未有过腺瘤，这需要进一步研究是否存在无腺瘤途径。
