本文由小咖机器人翻译整理

期刊来源：N Engl J Med

原文链接：https://doi.org/10.1056/NEJMoa2304714

摘要内容如下：

背景

结直肠癌是美国成人中第三大确诊癌症。早期检测可以预防超过90%的结直肠癌相关死亡，但尽管有多种可用的检测方法，仍有超过三分之一的符合筛查条件的人群没有及时进行筛查。基于血液的检测有可能提高筛查的依从性，更早地发现结直肠癌，并降低结直肠癌相关的死亡率。

方法

我们在符合结直肠癌筛查条件的人群中评估了基于血液的无细胞DNA（cfDNA）检测的性能特征。相对于结肠镜筛查，主要结果是对结直肠癌的敏感性和对晚期肿瘤（结直肠癌或晚期癌前病变）的特异性。次要结果是检测晚期癌前病变的敏感性。

结果

临床验证队列包括10，258人，其中7861人符合资格标准并可评价。在结肠镜检出的结直肠癌患者中，共有83.1%的患者cfDNA检测呈阳性，16.9%的患者cfDNA检测呈阴性，这表明cfDNA检测检测结直肠癌的灵敏度为83.1%（95%置信区间[CI]为72.2-90.3）。I、II或III期结直肠癌的敏感性为87.5%（95%CI，75.3至94.1），晚期癌前病变的敏感性为13.2%（95%CI，11.3至15.3）。在结肠镜检查中未发现任何晚期结直肠肿瘤（结直肠癌或晚期癌前病变）的参与者中，共有89.6%的人cfDNA血基检测阴性，而10.4%的人cfDNA血基检测阳性，这表明任何晚期肿瘤的特异性为89.6%（95%CI，88.8至90.3）。结肠镜检查阴性（无结直肠癌、晚期癌前病变或非晚期癌前病变）的特异性为89.9%（95%CI，89.0-90.7）。

结论

在平均风险筛查人群中，这种基于血液的cfDNA检测对结直肠癌的敏感性为83%，对晚期肿瘤的特异性为90%，对晚期癌前病变的敏感性为13%。（由Guardant Health资助；Eclipse ClinicalTrials.gov编号，NCT04136002。）

英文原文如下：

Abstracts

BACKGROUND  Colorectal cancer is the third most diagnosed cancer in adults in the United States. Early detection could prevent more than 90% of colorectal cancer-related deaths, yet more than one third of the screening-eligible population is not up to date with screening despite multiple available tests. A blood-based test has the potential to improve screening adherence, detect colorectal cancer earlier, and reduce colorectal cancer-related mortality.

METHODS  We assessed the performance characteristics of a cell-free DNA (cfDNA) blood-based test in a population eligible for colorectal cancer screening. The coprimary outcomes were sensitivity for colorectal cancer and specificity for advanced neoplasia (colorectal cancer or advanced precancerous lesions) relative to screening colonoscopy. The secondary outcome was sensitivity to detect advanced precancerous lesions.

RESULTS  The clinical validation cohort included 10,258 persons, 7861 of whom met eligibility criteria and were evaluable. A total of 83.1% of the participants with colorectal cancer detected by colonoscopy had a positive cfDNA test and 16.9% had a negative test, which indicates a sensitivity of the cfDNA test for detection of colorectal cancer of 83.1% (95% confidence interval [CI], 72.2 to 90.3). Sensitivity for stage I, II, or III colorectal cancer was 87.5% (95% CI, 75.3 to 94.1), and sensitivity for advanced precancerous lesions was 13.2% (95% CI, 11.3 to 15.3). A total of 89.6% of the participants without any advanced colorectal neoplasia (colorectal cancer or advanced precancerous lesions) identified on colonoscopy had a negative cfDNA blood-based test, whereas 10.4% had a positive cfDNA blood-based test, which indicates a specificity for any advanced neoplasia of 89.6% (95% CI, 88.8 to 90.3). Specificity for negative colonoscopy (no colorectal cancer, advanced precancerous lesions, or nonadvanced precancerous lesions) was 89.9% (95% CI, 89.0 to 90.7).

CONCLUSIONS  In an average-risk screening population, this cfDNA blood-based test had 83% sensitivity for colorectal cancer, 90% specificity for advanced neoplasia, and 13% sensitivity for advanced precancerous lesions. (Funded by Guardant Health; ECLIPSE ClinicalTrials.gov number, NCT04136002.).

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