基于变形金刚的人工智能技术利用 cfDNA 甲基化标记改进早期卵巢癌诊断

IF 11.7 1区医学 Q1 CELL BIOLOGY

Cell Reports Medicine Pub Date : 2024-08-01 DOI:10.1016/j.xcrm.2024.101666

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引用次数: 0

摘要

上皮性卵巢癌（EOC）是最致命的女性癌症，预后很差。早期检测是提高生存率的关键（I/II期患者的5年生存率超过70%，而III/IV期患者的5年生存率仅为25%），而通过液体活检从循环无细胞DNA（cfDNA）中提取甲基化标记物可实现早期检测。在这项研究中，我们首先从 330 万个全甲基组 CpG 位点中识别出可将 EOC 与健康女性对照区分开来的前 500 个 EOC 标记，并在 1800 份独立的 cfDNA 样本中进行了验证。然后，我们利用名为 MethylBERT 的预训练人工智能转换器系统开发了一个 EOC 诊断模型，该模型在早期 EOC 诊断中达到了 80% 的灵敏度和 95% 的特异性。接下来，我们开发了一种简单的数字液滴 PCR (ddPCR) 检测方法，该方法性能良好，有助于早期 EOC 检测。

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

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.

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来源期刊

Cell Reports Medicine Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)

CiteScore

15.00

自引率

1.40%

发文量

231

审稿时长

40 days

期刊介绍： Cell Reports Medicine is an esteemed open-access journal by Cell Press that publishes groundbreaking research in translational and clinical biomedical sciences, influencing human health and medicine. Our journal ensures wide visibility and accessibility, reaching scientists and clinicians across various medical disciplines. We publish original research that spans from intriguing human biology concepts to all aspects of clinical work. We encourage submissions that introduce innovative ideas, forging new paths in clinical research and practice. We also welcome studies that provide vital information, enhancing our understanding of current standards of care in diagnosis, treatment, and prognosis. This encompasses translational studies, clinical trials (including long-term follow-ups), genomics, biomarker discovery, and technological advancements that contribute to diagnostics, treatment, and healthcare. Additionally, studies based on vertebrate model organisms are within the scope of the journal, as long as they directly relate to human health and disease.