利用 cfDNA 片段组学特征构建堆叠集成模型进行食管鳞癌的早期检测。
Leveraging cfDNA fragmentomic features in a stacked ensemble model for early detection of esophageal squamous cell carcinoma.
机构信息
Department of Thoracic Surgery, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing, China; The State Key Laboratory of Pharmaceutical Biotechnology, School of Life Sciences, Nanjing University, Nanjing, China.
Department of Thoracic Surgery, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
出版信息
Cell Rep Med. 2024 Aug 20;5(8):101664. doi: 10.1016/j.xcrm.2024.101664. Epub 2024 Jul 31.
In this study, we develop a stacked ensemble model that utilizes cell-free DNA (cfDNA) fragmentomics for the early detection of esophageal squamous cell carcinoma (ESCC). This model incorporates four distinct fragmentomics features derived from whole-genome sequencing (WGS) and advanced machine learning algorithms for robust analysis. It is validated across both an independent validation cohort and an external cohort to ensure its generalizability and effectiveness. Notably, the model maintains its robustness in low-coverage sequencing environments, demonstrating its potentials in clinical settings with limited sequencing resources. With its remarkable sensitivity and specificity, this approach promises to significantly improve the early diagnosis and management of ESCC. This study represents a substantial step forward in the application of cfDNA fragmentomics in cancer diagnostics, emphasizing the need for further research to fully establish its clinical efficacy.
在这项研究中,我们开发了一个基于无细胞 DNA(cfDNA)片段组学的堆叠集成模型,用于早期检测食管鳞状细胞癌(ESCC)。该模型结合了源自全基因组测序(WGS)的四个不同的片段组学特征,以及先进的机器学习算法,以进行稳健的分析。它在独立验证队列和外部队列中都得到了验证,以确保其通用性和有效性。值得注意的是,该模型在低覆盖测序环境中保持稳健,表明其在测序资源有限的临床环境中具有潜力。该方法具有出色的灵敏度和特异性,有望显著改善 ESCC 的早期诊断和管理。这项研究代表着 cfDNA 片段组学在癌症诊断中的应用向前迈出了重要一步,强调需要进一步研究以充分确立其临床疗效。