Non-invasive early detection of cancer four years before conventional diagnosis using a blood test

被引:495
作者
Chen, Xingdong [1 ,2 ,3 ,4 ]
Gole, Jeffrey [5 ]
Gore, Athurva [5 ]
He, Qiye [6 ]
Lu, Ming [3 ,7 ]
Min, Jun [5 ]
Yuan, Ziyu [3 ]
Yang, Xiaorong [3 ,7 ]
Jiang, Yanfeng [1 ,2 ,3 ]
Zhang, Tiejun [8 ]
Suo, Chen [8 ]
Li, Xiaojie [6 ]
Cheng, Lei [6 ]
Zhang, Zhenhua [6 ]
Niu, Hongyu [6 ]
Li, Zhe [6 ]
Xie, Zhen [6 ]
Shi, Han [5 ]
Zhang, Xiang [9 ]
Fan, Min [10 ]
Wang, Xiaofeng [1 ,2 ,3 ]
Yang, Yajun [1 ,2 ,3 ]
Dang, Justin [5 ]
McConnell, Catie [5 ]
Zhang, Juan [3 ]
Wang, Jiucun [1 ,2 ,3 ,4 ]
Yu, Shunzhang [3 ,8 ]
Ye, Weimin [3 ,11 ]
Gao, Yuan [5 ]
Zhang, Kun [12 ]
Liu, Rui [5 ,6 ]
Jin, Li [1 ,2 ,3 ,4 ]
机构
[1] Fudan Univ, Sch Life Sci, State Key Lab Genet Engn, Shanghai 200438, Peoples R China
[2] Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, Shanghai 200438, Peoples R China
[3] Fudan Univ, Taizhou Inst Hlth Sci, Taizhou 225300, Jiangsu, Peoples R China
[4] Fudan Univ, Human Phenome Inst, Shanghai 201203, Peoples R China
[5] Singlera Genom Inc, La Jolla, CA 92037 USA
[6] Singlera Genom Shanghai Ltd, Shanghai 201203, Peoples R China
[7] Shandong Univ, Clin Epidemiol Unit, Qilu Hosp, Jinan 250012, Shandong, Peoples R China
[8] Fudan Univ, Sch Publ Hlth, Dept Epidemiol, Shanghai 200032, Peoples R China
[9] Taizhou Dis Control & Prevent Ctr, Taizhou 225300, Jiangsu, Peoples R China
[10] Taixing Dis Control & Prevent Ctr, Taizhou 225400, Jiangsu, Peoples R China
[11] Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden
[12] Univ Calif San Diego, Dept Bioengn, La Jolla, CA 92093 USA
基金
中国国家自然科学基金;
关键词
CIRCULATING TUMOR DNA; COLORECTAL-CANCER; METHYLATION; PLASMA; PERFORMANCE; STATISTICS; SAMPLES; POWER;
D O I
10.1038/s41467-020-17316-z
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
070301 [无机化学]; 070403 [天体物理学]; 070507 [自然资源与国土空间规划学]; 090105 [作物生产系统与生态工程];
摘要
Early detection has the potential to reduce cancer mortality, but an effective screening test must demonstrate asymptomatic cancer detection years before conventional diagnosis in a longitudinal study. In the Taizhou Longitudinal Study (TZL), 123,115 healthy subjects provided plasma samples for long-term storage and were then monitored for cancer occurrence. Here we report the preliminary results of PanSeer, a noninvasive blood test based on circulating tumor DNA methylation, on TZL plasma samples from 605 asymptomatic individuals, 191 of whom were later diagnosed with stomach, esophageal, colorectal, lung or liver cancer within four years of blood draw. We also assay plasma samples from an additional 223 cancer patients, plus 200 primary tumor and normal tissues. We show that PanSeer detects five common types of cancer in 88% (95% CI: 80-93%) of post-diagnosis patients with a specificity of 96% (95% CI: 93-98%), We also demonstrate that PanSeer detects cancer in 95% (95% CI: 89-98%) of asymptomatic individuals who were later diagnosed, though future longitudinal studies are required to confirm this result. These results demonstrate that cancer can be non-invasively detected up to four years before current standard of care.
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页数:10
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