Gen Li, Yongqiang Zhang, Kun Li, Xiaohong Liu, Yaping Lu, Zhenlin Zhang, Zhihai Liu, Yong Wu, Fei Liu, Hong Huang, Meixing Yu, Zhao Yang, Xiaoxue Zheng, Chengbin Guo, Yuanxu Gao, Taorui Wang, Manson Fok, Johnson Yiu-Nam Lau, Kun Shi, Xiaoqiong Gu, Lingchuan Guo, Huiyan Luo, Fanxin Zeng, Kang Zhang
Cell Rep Med . 2024 Aug 20;5(8):101666. doi: 10.1016/j.xcrm.2024.101666. Epub 2024 Aug 1.
Epithelial ovarian cancer (EOC) is the deadliest women's cancer and has a poor prognosis. Early detection is the key for improving survival (a 5-year survival rate in stage I/II is over 70% compared to that of 25% in stage III/IV) and can be achieved through methylation markers from circulating cell-free DNA (cfDNA) using a liquid biopsy. In this study, we first identify top 500 EOC markers differentiating EOC from healthy female controls from 3.3 million methylome-wide CpG sites and validated them in 1,800 independent cfDNA samples. We then utilize a pretrained AI transformer system called MethylBERT to develop an EOC diagnostic model which achieves 80% sensitivity and 95% specificity in early-stage EOC diagnosis. We next develop a simple digital droplet PCR (ddPCR) assay which archives good performance, facilitating early EOC detection.