Division of Gastroenterology and Hepatology, Department of Internal Medicine and Department of Human Genetics and Rogel Cancer Center, University of Michigan, Ann Arbor, Michigan 48109, USA; email:
Annu Rev Med. 2020 Jan 27;71:59-69. doi: 10.1146/annurev-med-103018-123125. Epub 2019 Aug 26.
Fecal (or stool) DNA examination is a noninvasive strategy recommended by several medical professional societies for colorectal cancer (CRC) screening in average-risk individuals. Fecal DNA tests assay stool for human DNA shed principally from the colon. Colonic lesions such as adenomatous and serrated polyps and cancers exfoliate cells containing neoplastically altered DNA that may be detected by sensitive assays that target specific genetic and epigenetic biomarkers to discriminate neoplastic lesions from non-neoplastic tissue. Cross-sectional validation studies confirmed initial case-control studies' assessment of performance of an optimized multitarget stool DNA (mt-sDNA) test, leading to approval by the US Food and Drug Administration in 2014. Compared to colonoscopy, mt-sDNA showed sensitivity of 92% for detection of CRC, much higher than the 74% sensitivity of another recommended noninvasive strategy, fecal immunochemical testing (FIT). Detections of advanced adenomas and sessile serrated polyps were higher with mt-sDNA than FIT (42% versus 24% and 42% versus 5%, respectively), but overall specificity for all lesions was lower (87% versus 95%). The mt-sDNA test increases patient life-years gained in CRC screening simulations, but its cost relative to other screening strategies needs to be reduced by 80-90% or its sensitivity for polyp detection enhanced to be cost effective. Noninvasive CRC screening strategies such as fecal DNA, however, have the potential to significantly increase national screening rates due to their noninvasive nature and convenience for patients.
粪便（或大便）DNA 检测是一种非侵入性策略，被多个医学专业协会推荐用于平均风险个体的结直肠癌（CRC）筛查。粪便 DNA 测试检测粪便中主要来自结肠的人 DNA。结直肠病变，如腺瘤性和锯齿状息肉和癌症，会脱落含有可能被针对特定遗传和表观遗传生物标志物的敏感检测方法检测到的肿瘤性改变 DNA 的细胞，以区分肿瘤性病变与非肿瘤性组织。横断面验证研究证实了初始病例对照研究对优化的多靶点粪便 DNA（mt-sDNA）检测性能的评估，这导致美国食品和药物管理局于 2014 年批准。与结肠镜检查相比，mt-sDNA 对 CRC 的检测灵敏度为 92%，远高于另一种推荐的非侵入性策略粪便免疫化学检测（FIT）的 74%。mt-sDNA 对高级腺瘤和无蒂锯齿状息肉的检出率高于 FIT（分别为 42%比 24%和 42%比 5%），但总体特异性（95%）较低。mt-sDNA 检测在 CRC 筛查模拟中增加了患者获得的生命年，但与其他筛查策略相比，其成本需要降低 80-90%，或其对息肉检测的敏感性需要提高，才能具有成本效益。然而，由于其非侵入性和对患者的便利性，粪便 DNA 等非侵入性 CRC 筛查策略有可能显著提高全国筛查率。
