Circulating cell-free DNA methylation-based multi-omics analysis allows early diagnosis of pancreatic ductal adenocarcinoma.

IF 6.6 2区 医学 Q1 Biochemistry, Genetics and Molecular Biology Molecular Oncology Pub Date : 2024-11-01 Epub Date: 2024-04-01 DOI:10.1002/1878-0261.13643
Guochao Zhao, Ruijingfang Jiang, Ying Shi, Suizhi Gao, Dansong Wang, Zhilong Li, Yuhong Zhou, Jianlong Sun, Wenchuan Wu, Jiaxi Peng, Tiantao Kuang, Yefei Rong, Jie Yuan, Shida Zhu, Gang Jin, Yuying Wang, Wenhui Lou
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Abstract

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive cancer with a 5-year survival rate of 7.2% in China. However, effective approaches for diagnosis of PDAC are limited. Tumor-originating genomic and epigenomic aberration in circulating free DNA (cfDNA) have potential as liquid biopsy biomarkers for cancer diagnosis. Our study aims to assess the feasibility of cfDNA-based liquid biopsy assay for PDAC diagnosis. In this study, we performed parallel genomic and epigenomic profiling of plasma cfDNA from Chinese PDAC patients and healthy individuals. Diagnostic models were built to distinguish PDAC patients from healthy individuals. Cancer-specific changes in cfDNA methylation landscape were identified, and a diagnostic model based on six methylation markers achieved high sensitivity (88.7% for overall cases and 78.0% for stage I patients) and specificity (96.8%), outperforming the mutation-based model significantly. Moreover, the combination of the methylation-based model with carbohydrate antigen 19-9 (CA19-9) levels further improved the performance (sensitivity: 95.7% for overall cases and 95.5% for stage I patients; specificity: 93.3%). In conclusion, our findings suggest that both methylation-based and integrated liquid biopsy assays hold promise as non-invasive tools for detection of PDAC.

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基于循环无细胞DNA甲基化的多组学分析可早期诊断胰腺导管腺癌
胰腺导管腺癌(PDAC)是一种侵袭性极强的癌症,在中国的 5 年生存率仅为 7.2%。然而,诊断 PDAC 的有效方法十分有限。循环游离DNA(cfDNA)中的肿瘤源基因组和表观基因组畸变有可能成为诊断癌症的液体生物标记物。我们的研究旨在评估基于 cfDNA 的液体活检检测用于 PDAC 诊断的可行性。在这项研究中,我们对中国 PDAC 患者和健康人的血浆 cfDNA 进行了平行的基因组和表观基因组分析。我们建立了诊断模型来区分 PDAC 患者和健康人。基于六个甲基化标记物的诊断模型具有较高的灵敏度(总体病例为88.7%,I期患者为78.0%)和特异性(96.8%),明显优于基于突变的模型。此外,将基于甲基化的模型与碳水化合物抗原 19-9(CA19-9)水平相结合也进一步提高了模型的性能(总体病例的灵敏度为 95.7%,I 期患者的灵敏度为 95.5%;特异性为 93.3%)。总之,我们的研究结果表明,基于甲基化的检测和综合液体活检检测都有望成为检测 PDAC 的无创工具。
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来源期刊
Molecular Oncology
Molecular Oncology Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
11.80
自引率
1.50%
发文量
203
审稿时长
10 weeks
期刊介绍: Molecular Oncology highlights new discoveries, approaches, and technical developments, in basic, clinical and discovery-driven translational cancer research. It publishes research articles, reviews (by invitation only), and timely science policy articles. The journal is now fully Open Access with all articles published over the past 10 years freely available.
期刊最新文献
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