Background: The expected and optimal adenoma detection rate (ADR) is not well characterized in Lynch syndrome (LS). The aim of this study is to determine the ADR, the overall colorectal neoplasia detection rate (CNDR), proximal serrated detection rate (PSDR), and CRC detection rate (CRCDR) in an LS cohort. Methods: A retrospective study was performed of individuals with LS who were evaluated at a single tertiary care center from May 2001 to September 2023 (n= 542). Data from procedure and pathology reports were collected along with relevant demographic, clinical history, and family history data. Fisher’s exact test and the Kruskal–Wallis test were used to assess factors associated with colorectal neoplasia. Results: Amongst 542 individuals with LS, 352 met the inclusion criteria, and their 1296 colonoscopies/sigmoidoscopies were used for analysis. The cohort was primarily female (64.5%), white (87.5%), and privately insured (76.1%), with a near even distribution across genotypes. CNDR was 27.9%, ADR was 21.4%, PSDR was 7.7%, and CRCDR was 1.5%. Advanced age, Medicare insurance, prior colonic resection, and prior history of non-CRC were significantly associated with an increased CNDR and ADR (p< 0.05). PSDR remained constant with age. There was no association with genotype, biological sex, race, smoking, BMI, aspirin use, nor family history. Conclusions: Despite frequent colonoscopies/sigmoidoscopies, individuals with LS maintain a high rate of colorectal neoplasia, primarily driven by increased detection of adenomas with advancing age. Neoplasia rates may serve as helpful “ballpark rates” for endoscopists performing colonoscopies/sigmoidoscopies in LS. However, further studies need to determine whether neoplasia rates are predictive of CRC risk and outcomes in LS.
背景：林奇综合征（LS）中腺瘤检出率（ADR）的预期值与最优值尚未明确界定。本研究旨在确定LS队列中的ADR、总体结直肠肿瘤检出率（CNDR）、近端锯齿状病变检出率（PSDR）及结直肠癌检出率（CRCDR）。方法：对2001年5月至2023年9月期间在某三级医疗中心接受评估的LS患者（n=542）进行回顾性研究。收集手术与病理报告数据，以及相关人口统计学特征、临床病史和家族史资料。采用Fisher精确检验和Kruskal-Wallis检验评估与结直肠肿瘤相关的因素。结果：在542例LS患者中，352例符合纳入标准，共分析其1296次结肠镜/乙状结肠镜检查数据。队列以女性（64.5%）、白人（87.5%）、拥有私人医疗保险（76.1%）为主，基因型分布基本均衡。CNDR为27.9%，ADR为21.4%，PSDR为7.7%，CRCDR为1.5%。高龄、享有医疗保险、既往结肠切除史及非结直肠癌病史与CNDR和ADR显著升高相关（p<0.05）。PSDR不随年龄变化。未发现与基因型、生理性别、种族、吸烟、体重指数、阿司匹林使用或家族史存在关联。结论：尽管接受频繁的结肠镜/乙状结肠镜检查，LS患者仍维持较高的结直肠肿瘤发生率，这主要源于随年龄增长腺瘤检出率的增加。肿瘤检出率可为内镜医师在LS患者中实施结肠镜/乙状结肠镜检查提供有价值的"基准参考值"。然而，仍需进一步研究明确肿瘤检出率是否能够预测LS患者的结直肠癌风险及临床结局。
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