Transformer-based AI technology improves early ovarian cancer diagnosis using cfDNA methylation markers

被引：1

作者：

Li, Gen ^{[1
]}

Zhang, Yongqiang ^{[1
]}

Li, Kun ^{[1
]}

Liu, Xiaohong ^{[2
,3
,4
,5
,6
]}

Lu, Yaping ^{[7
]}

Zhang, Zhenlin ^{[2
,3
,4
]}

Liu, Zhihai ^{[1
]}

Wu, Yong ^{[8
]}

Liu, Fei ^{[9
]}

Huang, Hong ^{[1
]}

Yu, Meixing ^{[1
]}

Yang, Zhao ^{[1
]}

Zheng, Xiaoxue ^{[1
]}

Guo, Chengbin ^{[1
,2
]}

Gao, Yuanxu ^{[2
,3
,4
,5
]}

Wang, Taorui ^{[2
,3
,4
]}

Fok, Manson ^{[2
,3
,4
]}

Lau, Johnson Yiu-Nam ^{[10
]}

Shi, Kun ^{[1
]}

Gu, Xiaoqiong ^{[1
]}

Guo, Lingchuan ^{[11
]}

Luo, Huiyan ^{[12
]}

Zeng, Fanxin ^{[13
]}

Zhang, Kang ^{[2
,3
,4
,5
,14
]}

机构：

[1] Guangzhou Women & Childrens Med Ctr, Guangzhou, Peoples R China

[2] Macau Univ Technol, Zhuhai Int Eye Ctr, Zhuhai, Peoples R China

[3] Macau Univ Technol, Zhuhai Peoples Hosp, Precis Med Ctr, Zhuhai, Peoples R China

[4] Macau Univ Technol, Affiliated Hosp 1, Fac Med, Zhuhai, Peoples R China

[5] Wenzhou Med Univ, Wenzhou Eye Hosp, Inst Adv Study Eye Hlth & Dis, Inst Clin Big Data, Wenzhou, Peoples R China

[6] UCL, Canc Inst, London WC1E 6BT, England

[7] Sinopharm Genom Technol Co Ltd, Sinopharm Med Lab Wuhan, Sinopharm Wuhan Precis Med Technol, Wuhan 430030, Peoples R China

[8] Jinan Univ, Guangzhou Overseas Chinese Hosp, Affiliated Hosp 1, Guangzhou, Peoples R China

[9] Chinese Acad Med Sci Peking Union Med Coll, Canc Hosp, Natl Canc Ctr, Natl Clin Res Ctr Canc, Beijing, Peoples R China

[10] Hong Kong Baptist Univ, Dept Biol, Hong Kong, Peoples R China

[11] Suzhou Univ, Affiliated Hosp 1, Dept Pathol, Suzhou, Peoples R China

[12] Sun Yat Sen Univ, Collaborat Innovat Ctr Canc Med, Canc Ctr, State Key Lab Oncol South China, Guangzhou, Peoples R China

[13] Dazhou Cent Hosp, Dept Clin Res Ctr, Dazhou, Peoples R China

[14] Guangzhou Natl Lab, Guangzhou, Peoples R China

来源：

CELL REPORTS MEDICINE | 2024年 / 5卷 / 08期

基金：

中国国家自然科学基金;

关键词：

CIRCULATING TUMOR DNA; COLLABORATIVE TRIAL; ALGORITHM; MORTALITY; BENIGN; SCREEN; INDEX; CA125; WOMEN; ASSAY;

D O I：

10.1016/j.xcrm.2024.101666

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页数：18

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