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<p>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.</p>

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Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics

  • 期刊论文

  • 发表日期：

    2025年5月27日

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  • Hua Bao,
  • Shanshan Yang,
  • Xiaoxi Chen,
  • Guangqiang Dong,
  • Yuan Mao,
  • Shuyu Wu,
  • Xi Cheng,
  • Xuxiaochen Wu,
  • Wanxiangfu Tang,
  • Min Wu,
  • Shiting Tang,
  • Wenhua Liang,
  • Zheng Wang,
  • Liu Yang,
  • Jiaqi Liu,
  • Tao Wang,
  • Bingzhong Zhang,
  • Kuirong Jiang,
  • Qin Xu,
  • Jierong Chen,
  • Hairong Huang,
  • Junjie Peng,
  • Xiaomeng Xia,
  • Yumei Wu,
  • Shun Xu,
  • Ji Tao,
  • Li Chong,
  • Dongqin Zhu,
  • Ruowei Yang,
  • Shuang Chang,
  • Peng He,
  • Xiuxiu Xu,
  • JinPeng Zhang,
  • Yi Shen,
  • Ya Jiang,
  • Sisi Liu,
  • Xian Zhang,
  • Xue Wu,
  • Xiaonan Wang,
  • Yang Shao

摘要

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.