使用深度学习对从未吸烟者肺癌的基因组特征
bioRxiv : the preprint server for biology
|September 2, 2025
概括
这项研究引入了一种新的深度学习模型,用于从组织学图像中预测从未吸烟的肺腺癌 (NS-LUAD) 的16个分子变化. 该模型有望在这种独特的肺癌亚型中指导分子测试和精确医学.
科学领域:
- 计算病理学和生物信息学
- 在瘤学中的人工智能
- 分子诊断
背景情况:
- 深度学习显示了从整个幻灯片图像 (WSIs) 中推断遗传特征的潜力.
- 关于将这些方法应用于从未吸烟的肺腺癌 (NS-LUAD) 的研究是有限的,这是一种不同的癌症亚群.
- 现有的模型通常侧重于受限分子范围和可变性能的吸烟者群体.
研究的目的:
- 开发和验证一个定制的深卷积神经网络,用于NS-LUAD的多标签分类.
- 直接从H&E染色的WSIs中实现16个分子变化的同时预测.
- 在保持预测精度的同时,优化模型以减少计算复杂性.
主要方法:
- 一个定制的基于ResNet50的深度卷积神经网络被设计为多标签分类的架构修改.
- 该模型包含一个简化的剩余块,选择性的快捷连接和基于西格形的分类头.
- 通过10倍交叉验证和持久验证,对来自Sherlock-Lung研究的495个WSI进行了培训和评估.
主要成果:
- 该模型实现了11个分子特征的高AUROC值 (0.84-0.93),包括EGFR突变,KRAS突变,TP53突变,RBM10突变,MDM2放大,kataegis,CDKN2A删除,ALK融合和全基因组翻倍.
- 瘤突变负担 (AUROC=0. 67),APOBEC特征 (AUROC=0. 57) 和特定的KRAS热点突变 (p. G12C:AUROC=0. 74,p. G12V:AUROC=0. 55,p.
- 与Inception-v3等已有的架构相比,该模型的性能在大多数功能上显著提高.
结论:
- 开发的深度学习模型有效地预测了来自WSI的NS-LUAD的多个分子变化.
- 这种方法有可能改善分子检测患者的分类.
- 进一步优化可以为NS-LUAD患者提供更精确的治疗策略.
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