1. The development of a cSMART-based integrated model for hepatocellular carcinoma diagnosis
- Author
-
Tong Wu, Rong Fan, Jian Bai, Zhao Yang, Yun-Song Qian, Lu-Tao Du, Chun-Ying Wang, Ying-Chao Wang, Guo-Qing Jiang, Dan Zheng, Xiao-Tang Fan, Bo Zheng, Jing-Feng Liu, Guo-Hong Deng, Feng Shen, He-Ping Hu, Yi-Nong Ye, Qing-Zheng Zhang, Jing Zhang, Yan-Hang Gao, Jie Xia, Hua-Dong Yan, Min-Feng Liang, Yan-Long Yu, Fu-Ming Sun, Yu-Jing Gao, Jian Sun, Chun-Xiu Zhong, Yin Wang, Hui Wang, Fei Kong, Jin-Ming Chen, Hao Wen, Bo-Ming Wu, Chuan-Xin Wang, Lin Wu, Jin-Lin Hou, Xiao-Long Liu, Hong-Yang Wang, and Lei Chen
- Subjects
Cell-free DNA ,Hepatocellular carcinoma ,Mutation ,Biomarker ,Diagnosis ,Diseases of the blood and blood-forming organs ,RC633-647.5 ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background Hepatocellular carcinoma (HCC) generally arises from a background of liver cirrhosis (LC). Patients with cirrhosis and suspected HCC are recommended to undergo serum biomarker tests and imaging diagnostic evaluation. However, the performance of routine diagnostic methods in detecting early HCC remains unpromising. Methods Here, we conducted a large-scale, multicenter study of 1675 participants including 490 healthy controls, 577 LC patients, and 608 HCC patients from nine clinical centers across nine provinces of China, profiled gene mutation signatures of cell-free DNA (cfDNA) using Circulating Single-Molecule Amplification and Resequencing Technology (cSMART) through detecting 931 mutation sites across 21 genes. Results An integrated diagnostic model called “Combined method” was developed by combining three mutation sites and three serum biomarkers. Combined method outperformed AFP in the diagnosis of HCC, especially early HCC, with sensitivities of 81.25% for all stages and 66.67% for early HCC, respectively. Importantly, the integrated model exhibited high accuracy in differentiating AFP-negative, AFP-L3-negative, and PIVKA-II-negative HCCs from LCs.
- Published
- 2023
- Full Text
- View/download PDF