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超敏感的分子残留疾病检测通过全基因组测序与一次性读取错误校正

Xinxing Li¹, Tao Liu², Antonella Bacchiocchi³

¹Department of Gastrointestinal Surgery, Tongji Hospital, Tongji University School of Medicine, Shanghai, 200065, P. R. China.

EMBO molecular medicine

|August 20, 2024

概括

在无细胞DNA分析中,AccuScan技术显著减少了全基因组测序错误. 这一突破使得对最小残留疾病 (MRD) 和循环瘤DNA (ctDNA) 的高度敏感检测能够用于癌症监测.

科学领域:

基因组学就是基因组学.
分子生物学分子生物学
癌症研究癌症研究

背景情况:

无细胞DNA (cfDNA) 的全基因组测序 (WGS) 显示出对最小残留疾病 (MRD) 检测有希望.
目前,WGS的高错误率限制了其在敏感MRD检测中的临床实用性.

研究的目的:

介绍AccuScan,一个高效的cfDNA WGS技术,具有全基因组错误校正.
评估AccuScan在MRD检测和癌症监测方面的性能.

主要方法:

开发了AccuScan用于cfDNA WGS的单读级错误纠正.
评估了MRD检测的分析灵敏度和特异性.
应用AccuScan来预测结直肠和食道癌症的复发.
在使用AccuScan检测到ctDNA的黑色素瘤患者中监测免疫治疗反应.

主要成果:

AccuScan实现了4.2×10−7的超低误差率,比现有方法低两个数量级.
已证明分析灵敏度低至10-6VAF,对MRD的特异性为99%.
在结直肠癌中预测复发的灵敏度达到90%,在食道癌中达到67%.
通过AccuScan检测到的ctDNA动态与黑色素瘤患者的临床结果相关.

结论:

AccuScan提供了一个高度精确的WGS解决方案,用于敏感的MRD检测.
能够在百万分之一的水平上检测循环瘤DNA (ctDNA).
由于AccuScan不需要大量的样本输入或个性化试剂,因此可以在更广泛的临床应用中使用.

关键词:

循环瘤 DNA 的循环.分子残留疾病分子残留疾病单读错误纠正单读错误纠正没有白细胞的白血球.整个基因组的测序.

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