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张贝
(2023-04-30 21:54):
#paper Detecting Liver Cancer Using Cell-Free DNA Fragmentomes
Cancer Discov. 023 Mar 1;13(3):616-631. doi: 10.1158/2159-8290.CD-22-0659. 本文是DELFI技术应用于肝癌筛查的最新研究成果。DELFI的全称是DNA evaluation of fragments for early interception，即利用血液cfDNA全基因组片段化特征间的差异，来区分肿瘤患者和非癌症受试者。本文构建了两个机器学习模型，分别适用于肝癌高危人群和低风险人群，这两个模型纳入的特征类型略有差异，在低风险人群模型中新增TFBS特征。最后，作者使用蒙特卡洛模拟评估DELFI模型在10万理论高危人群中的性能，与指南推荐的腹部超声联合AFP的检测方法相比，DELFI技术不仅极大提高肝癌的检出率，同时有望降低肝癌检测的假阴性率。
Abstract:
Abstract Liver cancer is a major cause of cancer mortality worldwide. Screening individuals at high-risk, including those with cirrhosis and viral hepatitis, provides an avenue for improved survival, but current …
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Abstract Liver cancer is a major cause of cancer mortality worldwide. Screening individuals at high-risk, including those with cirrhosis and viral hepatitis, provides an avenue for improved survival, but current screening methods are inadequate. In this study, we used whole-genome cell-free DNA fragmentome analyses to evaluate 724 individuals from the US, EU, or Hong Kong with hepatocellular carcinoma (HCC) or who were at average or high-risk for HCC. Using a machine learning model that incorporated multi-feature fragmentome data, the sensitivity for detecting cancer was 88% in an average risk population at 98% specificity, and 85% among high-risk individuals at 80% specificity. We validated these results in an independent population. cfDNA fragmentation changes reflected genomic and chromatin changes in liver cancer, including from transcription factor binding sites. These findings provide a biological basis for changes in cfDNA fragmentation in patients with liver cancer and provide an accessible approach for non-invasive cancer detection.
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