Nature medicine · 2025
Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics.
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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
Аннотация
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.