Institute of Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Clin Gastroenterol Hepatol. 2010 Feb;8(2):174-82. doi: 10.1016/j.cgh.2009.10.003. Epub 2009 Oct 14.
BACKGROUND & AIMS: Individuals with hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome) have a high risk for developing colorectal cancer (CRC). We evaluated the efficacy of annual surveillance colonoscopies to detect adenomas and CRCs.
In a prospective, multicenter cohort study, 1126 individuals underwent 3474 colonoscopies. We considered individuals from 3 groups of HNPCC families: those with a pathogenic germline mutation in a mismatch repair gene (MUT group), those without a mutation but with microsatellite instability (MSI group), and those who fulfilled the Amsterdam criteria without microsatellite instability (MSS group).
Compliance to annual intervals was good, with 81% of colonoscopies completed within 15 months. Ninety-nine CRC events were observed in 90 patients. Seventeen CRCs (17%) were detected through symptoms (8 before baseline colonoscopy, 8 at intervals >15 months to the preceding colonoscopy, and 1 interval cancer). Only 2 of 43 CRCs detected by follow-up colonoscopy were regionally advanced. Tumor stages were significantly lower among CRCs detected by follow-up colonoscopies compared with CRCs detected by symptoms (P = .01). Cumulative CRC risk at the age of 60 years was similar in the MUT and MSI groups (23.0% combined; 95% confidence interval [CI], 14.8%-31.2%) but considerably lower in the MSS group (1.8%; 95% CI, 0.0%-5.1%). Adenomas at baseline colonoscopy predicted an earlier occurrence of subsequent adenoma (hazard ratio, 2.6; 95% CI, 1.7-4.0) and CRC (hazard ratio, 3.9; 95% CI, 1.7-8.5), providing information about interindividual heterogeneity of adenomas and kinetics of CRC formation.
Annual colonoscopic surveillance is recommended for individuals with HNPCC. Less intense surveillance might be appropriate for MSS families.
遗传性非息肉病性结直肠癌(HNPCC;林奇综合征)患者结直肠癌(CRC)发病风险高。我们评估了年度监测结肠镜检查在发现腺瘤和 CRC 中的效果。
在一项前瞻性、多中心队列研究中,1126 名个体接受了 3474 次结肠镜检查。我们考虑了来自 3 组 HNPCC 家族的个体:存在错配修复基因种系突变的个体(MUT 组)、无突变但存在微卫星不稳定(MSI)的个体(MSI 组)以及符合阿姆斯特丹标准但不存在微卫星不稳定的个体(MSS 组)。
年度间隔的依从性良好,81%的结肠镜检查在 15 个月内完成。90 名患者中观察到 99 例 CRC 事件。17 例 CRC(17%)通过症状发现(8 例在基线结肠镜检查前,8 例在距离上一次结肠镜检查超过 15 个月时发现,1 例间隔期癌症)。仅 2 例通过随访结肠镜检查发现的 43 例 CRC 为区域性进展期。与通过症状发现的 CRC 相比,通过随访结肠镜检查发现的 CRC 分期显著较低(P=0.01)。60 岁时的累积 CRC 风险在 MUT 和 MSI 组相似(合计 23.0%;95%CI,14.8%-31.2%),但在 MSS 组明显较低(1.8%;95%CI,0.0%-5.1%)。基线结肠镜检查时的腺瘤预测随后腺瘤(危险比,2.6;95%CI,1.7-4.0)和 CRC(危险比,3.9;95%CI,1.7-8.5)更早发生,提供了关于腺瘤个体间异质性和 CRC 形成动力学的信息。
建议对 HNPCC 患者进行年度结肠镜监测。对于 MSS 家族,可能需要更不频繁的监测。