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Updated: Jan 29, 2026

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在无细胞DNA中基于表观遗传不稳定的指标,用于早期癌症检测

Sara-Jayne Thursby¹, Zhicheng Jin¹, Jacob Blum¹

¹Johns Hopkins Medicine Baltimore, MD United States.

Clinical cancer research : an official journal of the American Association for Cancer Research

|January 27, 2026

概括

无细胞DNA (cfDNA) 的表观遗传不稳定性显示出癌症检测的前景. 这种新的表观遗传不稳定指数 (EII) 方法有效地识别乳腺和肺癌,优于传统方法.

科学领域:

基因组学就是基因组学.
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
癌症生物学癌症生物学

背景情况:

癌症的特点是显著的DNA甲基化变化和高表观遗传不稳定性.
在癌症发育过程中,表观遗传变异会随机发生.
目前的癌症检测方法可以通过新的生物标志物来改进.

研究的目的:

评估表观遗传不稳定性对基于无细胞DNA (cfDNA) 的癌症检测的有用性.
为癌症查开发和验证用于测量cfDNA表观遗传不稳定的指标.

主要方法:

分析了癌症DNA甲基化数据集 (n=2,084) 以确定269个捕获癌症特异性表观遗传不稳定的CGI区域.
开发了表观遗传不稳定指数 (EII) 来量化cfDNA甲基化不稳定性.
利用机器学习分类器与EII用于癌症检测.

主要成果:

EII分类器从高灵敏度和特异性的cfDNA中确定了乳腺和肺癌.
在95%的特异性下,对于IA阶段的LUAD获得了~81%的灵敏度,对于早期乳腺癌获得了~68%的灵敏度.
与使用绝对甲基化变化的标准方法相比,表现出优异的性能.

结论:

通过EII量化表观遗传不稳定是一种新且有效的方法,用于使用cfDNA将癌症与正常样本区分开来.
开发的基于EII的策略显示了在癌症查中临床应用的潜力.
进一步的开发和验证支持未来在瘤学中使用这些表观遗传不稳定性方法.

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