State Key Laboratory of Genetic Engineering and Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, 200438, Shanghai, China.
Taizhou Institute of Health Sciences, Fudan University, 225300, Taizhou, Jiangsu, China.
Nat Commun. 2020 Jul 21;11(1):3475. doi: 10.1038/s41467-020-17316-z.
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.
早期发现有可能降低癌症死亡率,但有效的筛查测试必须在纵向研究中证明无症状癌症在常规诊断前数年即可被检测到。在台州纵向研究(TZL)中,123115 名健康受试者提供了血浆样本进行长期储存,随后监测癌症的发生情况。在这里,我们报告了基于循环肿瘤 DNA 甲基化的非侵入性血液检测 PanSeer 在来自 605 名无症状个体的 TZL 血浆样本中的初步结果,其中 191 名个体在采血后四年内被诊断患有胃癌、食管癌、结直肠癌、肺癌或肝癌。我们还检测了另外 223 名癌症患者以及 200 份原发性肿瘤和正常组织的血浆样本。我们发现 PanSeer 在 88%(95%CI:80-93%)的确诊后患者中可以检测到五种常见类型的癌症,特异性为 96%(95%CI:93-98%),我们还证明 PanSeer 在 95%(95%CI:89-98%)的无症状个体中可以检测到癌症,尽管需要进一步的纵向研究来确认这一结果。这些结果表明,癌症可以在当前标准护理前四年进行非侵入性检测。