利用多维游离DNA片段组学早期检测多种癌症类型
Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics.
作者信息
Bao Hua, Yang Shanshan, Chen Xiaoxi, Dong Guangqiang, Mao Yuan, Wu Shuyu, Cheng Xi, Wu Xuxiaochen, Tang Wanxiangfu, Wu Min, Tang Shiting, Liang Wenhua, Wang Zheng, Yang Liu, Liu Jiaqi, Wang Tao, Zhang Bingzhong, Jiang Kuirong, Xu Qin, Chen Jierong, Huang Hairong, Peng Junjie, Xia Xiaomeng, Wu Yumei, Xu Shun, Tao Ji, Chong Li, Zhu Dongqin, Yang Ruowei, Chang Shuang, He Peng, Xu Xiuxiu, Zhang JinPeng, Shen Yi, Jiang Ya, Liu Sisi, Zhang Xian, Wu Xue, Wang Xiaonan, Shao Yang
机构信息
Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China.
Nanjing Jiangbei New Area Center for Public Health Service, Nanjing, China.
出版信息
Nat Med. 2025 May 27. doi: 10.1038/s41591-025-03735-2.
The multicancer early detection (MCED) test has the potential to enhance current cancer-screening methods. We evaluated a new MCED test that analyzes plasma cell-free DNA using genetic- and fragmentomics-based features from whole-genome sequencing. The present study included an internal validation cohort of 3,021 patients with cancer and 3,370 noncancer controls, and an independent cohort of 677 patients with cancer and 687 noncancer individuals. The results demonstrated an overall sensitivity of 87.4%, specificity of 97.8% and tissue-of-origin prediction accuracy of 82.4% in the independent validation cohort. Preliminary results from a prospective study of 3,724 asymptomatic participants showed a sensitivity of 53.5% (predominantly early stage cancers) and specificity of 98.1%. These findings indicate that the MCED test has strong potential to improve early cancer detection and support clinical decision-making.
多癌早期检测（MCED）测试有潜力提升当前的癌症筛查方法。我们评估了一种新的MCED测试，该测试利用全基因组测序中基于基因和片段组学的特征来分析血浆游离DNA。本研究纳入了一个包含3021例癌症患者和3370例非癌症对照的内部验证队列，以及一个包含677例癌症患者和687例非癌症个体的独立队列。结果显示，在独立验证队列中，总体灵敏度为87.4%，特异性为97.8%，组织起源预测准确率为82.4%。一项对3724名无症状参与者的前瞻性研究的初步结果显示，灵敏度为53.5%（主要为早期癌症），特异性为98.1%。这些发现表明，MCED测试在改善早期癌症检测和支持临床决策方面具有强大潜力。
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