National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
United European Gastroenterol J. 2023 Feb;11(1):60-68. doi: 10.1002/ueg2.12354. Epub 2022 Dec 26.
Lynch syndrome (LS), an autosomal dominant disorder caused by pathogenic germline variants in DNA mismatch repair (MMR) genes, represents the most common hereditary colorectal cancer (CRC) syndrome. Lynch syndrome patients are at high risk of CRC despite regular endoscopic surveillance.
Our aim was to investigate the diagnostic performance of artificial intelligence (AI)-assisted colonoscopy in comparison to High-Definition white-light endoscopy (HD-WLE) for the first time.
Patients ≥18 years with LS, with a pathogenic germline variant (MLH1, MHS2, MSH6), and at least one previous colonoscopy (interval 10-36 months) were eligible. Patients were stratified by previous CRC and affected MMR gene with a 1:1 allocation ratio (AI-assisted vs. HD white-light endoscopy) in this exploratory pilot trial.
Between Dec-2021 and Dec-2022, 101 LS patients were randomised and 96 patients were finally analyzed after exclusion of 5 patients due to insufficient bowel preparation. In the HD-WLE arm, adenomas were detected in 12/46 patients compared to 18/50 in the AI arm (26.1% [95% CI 14.3-41.1] vs. 36.0% [22.9-50.8]; p = 0.379). The use of AI-assisted colonoscopy especially increased detection of flat adenomas (Paris classification 0-IIb) (examinations with detected flat adenomas: 3/46 [6.5%] vs. 10/50 [20%]; p = 0.07; numbers of detected flat adenomas: 4/20 vs. 17/30, p = 0.018). The median withdrawal time did not differ significantly between HD-WLE and AI (14 vs. 15 min; p = 0.170).
We here present first data suggesting that real-time AI-assisted colonoscopy is a promising approach to optimize endoscopic surveillance in LS patients, in particular to improve the detection of flat adenomas.
林奇综合征(LS)是一种常染色体显性遗传病,由 DNA 错配修复(MMR)基因的致病性种系变异引起,是最常见的遗传性结直肠癌(CRC)综合征。尽管进行了定期内镜监测,LS 患者仍存在 CRC 的高风险。
我们首次旨在研究人工智能(AI)辅助结肠镜检查与高清白光内镜(HD-WLE)相比的诊断性能。
≥18 岁的 LS 患者,存在致病性种系变异(MLH1、MHS2、MSH6),且至少有一次既往结肠镜检查(间隔 10-36 个月),符合入组条件。在这项探索性试点试验中,患者按照既往 CRC 病史和受影响的 MMR 基因进行 1:1 分层(AI 辅助与 HD 白光内镜)。
在 2021 年 12 月至 2022 年 12 月期间,共纳入 101 例 LS 患者,排除 5 例因肠道准备不足的患者后,最终有 96 例患者纳入分析。在 HD-WLE 组中,46 例患者中发现腺瘤 12 例,而 AI 组中发现腺瘤 18 例(26.1% [95%CI 14.3-41.1] vs. 36.0% [22.9-50.8];p=0.379)。AI 辅助结肠镜检查的使用尤其增加了扁平腺瘤(巴黎分类 0-IIb)的检出率(发现扁平腺瘤的检查:3/46 [6.5%] vs. 10/50 [20%];p=0.07;发现的扁平腺瘤数量:4/20 vs. 17/30,p=0.018)。HD-WLE 和 AI 之间的退镜时间中位数无显著差异(14 分钟 vs. 15 分钟;p=0.170)。
我们首次提供的数据表明,实时 AI 辅助结肠镜检查是一种很有前途的方法,可以优化 LS 患者的内镜监测,特别是提高扁平腺瘤的检出率。