Stool DNA screening for colorectal neoplasia: biological and technical basis for high detection rates
Stool DNA screening for colorectal neoplasia: biological and technical basis for high detection rates
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DOI：
10.1097/pat.0b013e3283502fdf
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发表时间：
2012-02-01
期刊：
影响因子：
4.5
通讯作者：
Ahlquist, David A.
中科院分区：
文献类型：
--
作者：
Berger, Barry M.;Ahlquist, David A.
结直肠癌（CRC）是全球癌症相关死亡的第二大常见原因，通过有效筛查和切除前驱病变可以预防。然而，由于参与率低和筛查工具本身的性能限制，筛查工作受到阻碍。粪便DNA检测已经成为一种生物学上合理和用户友好的策略，用于CRC和关键前驱病变的非侵入性检测。与大多数传统的筛查工具不同，粪便DNA检测同样可以很好地检测近端和远端结直肠肿瘤。几个关键的技术进步导致粪便DNA检测越来越准确的方法，包括使用DNA防腐缓冲液与粪便收集，有效的目标捕获和扩增方法，广泛的信息标记面板，和自动化的测定组件。根据最近的研究，先进的多标记粪便DNA检测，包括甲基化标记，突变标记和粪便血红蛋白的评估，已被证明在病例对照环境中以85%和更高的灵敏度检测CRC，并以60%和更高的灵敏度检测> 1 cm的腺瘤。如果多标记粪便检测的高准确性是在目前正在进行的平均风险的人的多中心筛查研究证实，那么这些粪便检测可能会影响我们的CRC筛查padigment.This审查讨论的生物学基础，关键技术的进展，和最近的临床性能验证粪便DNA检测。
Colorectal cancer (CRC), the second most common cause of cancer-related mortality worldwide, is preventable with effective screening and removal of precursor lesions. Yet, screening efforts have been hampered by low participation rates and by performance limitations of the screening tools themselves. Stool DNA testing has emerged as a biologically rational and user-friendly strategy for the non-invasive detection of both CRC and critical precursor lesions. Unlike most conventional screening tools, stool DNA testing detects proximal and distal colorectal neoplasms equally well. Several key technical advances have led to increasingly accurate approaches for stool DNA testing including use of a DNA preservative buffer with stool collection, efficient target capture and amplification methods, broadly informative marker panels, and automated assay components. Based on recent studies, advanced multi-marker stool DNA tests including methylated markers, mutation markers and an assessment of faecal haemoglobin have been shown to detect CRC at sensitivities of 85% and higher and adenomas >1 cm at 60% and higher in a case-control environment. If the high accuracy of multi-marker stool tests is corroborated in multicentre screening studies on average-risk persons currently underway, then these stool tests could influence our CRC screening paradigm.This review discusses the biological basis, key technical advances, and recent clinical performance validation of stool DNA testing.