The development of a cSMART-based integrated model for hepatocellular carcinoma diagnosis

作者：Tong Wu, Rong Fan, Jian Bai, Yang Zhao, Yun-Song Qian, Lutao Du, Chunying Wang, Yingchao Wang, Guo‐Qing Jiang, Dan Zheng, Xiaotang Fan, Bo Zheng, Jingfeng Liu, Guohong Deng, Feng Shen, Heping Hu, Yi-Nong Ye, Qingzheng Zhang, Jing Zhang, Yanhang Gao, Jie Xia, Huadong Yan, Min-Feng Liang, Yan-Long Yu, Fu-Ming Sun, Yujing Gao, Jian Sun, Chun-Xiu Zhong, Yin Wang, Hui Wang, Hui Wang, Fei Kong, Jin-Ming Chen, Hao Wen, Bo-Ming Wu, Chuanxin Wang, Lin Wu, Jin-Lin Hou, Xiaolong Liu, Hong-Yang Wang, Hongyang Wang, Lei Chen · 发表于：Journal of Hematology & Oncology · 年份：2023 · DOI：10.1186/s13045-022-01396-z · 被引用次数：21 · 研究领域：Hepatocellular Carcinoma Treatment and Prognosis、Hepatitis B Virus Studies、Cancer Genomics and Diagnostics

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.