• Guibin Qiao, Weitao Zhuang, Bo Dong, Chengcheng Li, Jiayue Xu, Guoqiang Wang, Liang Xie, Zihao Zhou, Dan Tian, Gang Chen, Jiming Tang, Haiyu Zhou, Dongkun Zhang, Ruiqing Shi, Rixin Chen, Weiqi Nian, Yuzi Zhang, Jing Zhao, Xiaofang Wen, Yu Xu, Bingsi Li, Zhihong Zhang, Shangli Cai, Xiaosong Ben, and Yu Qi.
• Department of Thoracic Surgery, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, 106 Zhongshan Second Road, Guangzhou, 510080, China.
• Bmc Med. 2021 Oct 13; 19 (1): 243.

BackgroundPlasma cell-free DNA (cfDNA) methylation has shown promising results in the early detection of multiple cancers recently. Here, we conducted a study to investigate the performance of cfDNA methylation in the early detection of esophageal cancer (ESCA).MethodsSpecific methylation markers for ESCA were identified and optimized based on esophageal tumor and paired adjacent tissues (n = 24). Age-matched participants with ESCA (n = 85), benign esophageal diseases (n = 10), and healthy controls (n = 125) were randomized into the training and test sets to develop a classifier to differentiate ESCA from healthy controls and benign esophageal disease. The classifier was further validated in an independent plasma cohort of ESCA patients (n = 83) and healthy controls (n = 98).ResultsIn total, 921 differentially methylated regions (DMRs) between tumor and adjacent tissues were identified. The early detection classifier based on those DMRs was first developed and tested in plasma samples, discriminating ESCA patients from benign and healthy controls with a sensitivity of 76.2% (60.5-87.9%) and a specificity of 94.1% (85.7-98.4%) in the test set. The performance of the classifier was consistent irrespective of sex, age, and pathological diagnosis (P > 0.05). In the independent plasma validation cohort, similar performance was observed with a sensitivity of 74.7% (64.0-83.6%) and a specificity of 95.9% (89.9-98.9%). Sensitivity for stage 0-II was 58.8% (44.2-72.4%).ConclusionWe demonstrated that the cfDNA methylation patterns could distinguish ESCAs from healthy individuals and benign esophageal diseases with promising sensitivity and specificity. Further prospective evaluation of the classifier in the early detection of ESCAs in high-risk individuals is warranted.© 2021. The Author(s).

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