用多模态MRI无创预测胶质瘤IDH突变,准确率超90%
FoundBioNet: A Foundation-Based Model for IDH Genotyping of Glioma from Multi-Parametric MRI
- 基于SWIN-UNETR架构,融合肿瘤关注特征与跨模态差异分析
- 在6个数据集上最高达90.58%的AUC,显著优于基线模型
- 适合临床影像诊断与精准医疗研究,提升胶质瘤个性化诊疗
准确、非侵入性检测异柠檬酸脱氢酶(IDH)突变对胶质瘤管理至关重要。传统方法依赖侵入性组织采样,难以捕捉肿瘤空间异质性。尽管深度学习在分子分型中展现潜力,但其性能常受限于标注数据稀缺。相比之下,基础深度学习模型为胶质瘤影像生物标志物提供更泛化的解决方案。我们提出基于基础模型的生物标志物网络(FoundBioNet),采用SWIN-UNETR架构,从多参数MRI非侵入性预测IDH突变状态。引入两个关键模块:肿瘤关注特征编码(TAFE)以提取多尺度、肿瘤聚焦特征,以及跨模态差异(CMD)以突出与IDH突变相关的细微T2-FLAIR不匹配信号。模型在来自六个公开数据集的1705例胶质瘤患者多中心队列上训练与验证。在独立测试集EGD、TCGA、Ivy GAP、RHUH和UPenn上,模型分别达到90.58%、88.08%、65.41%和80.31%的AUC,均显著优于基线方法(p ≤ 0.05)。消融实验确认TAFE与CMD模块对提升预测精度均至关重要。通过大规模预训练与任务特定微调,FoundBioNet实现可泛化的胶质瘤表征,提升诊断准确性与可解释性,有望推动个性化患者管理。
原文摘要 · Abstract (English)
Accurate, noninvasive detection of isocitrate dehydrogenase (IDH) mutation is essential for effective glioma management. Traditional methods rely on invasive tissue sampling, which may fail to capture a tumor's spatial heterogeneity. While deep learning models have shown promise in molecular profiling, their performance is often limited by scarce annotated data. In contrast, foundation deep learning models offer a more generalizable approach for glioma imaging biomarkers. We propose a Foundation-based Biomarker Network (FoundBioNet) that utilizes a SWIN-UNETR-based architecture to noninvasively predict IDH mutation status from multi-parametric MRI. Two key modules are incorporated: Tumor-Aware Feature Encoding (TAFE) for extracting multi-scale, tumor-focused features, and Cross-Modality Differential (CMD) for highlighting subtle T2-FLAIR mismatch signals associated with IDH mutation. The model was trained and validated on a diverse, multi-center cohort of 1705 glioma patients from six public datasets. Our model achieved AUCs of 90.58%, 88.08%, 65.41%, and 80.31% on independent test sets from EGD, TCGA, Ivy GAP, RHUH, and UPenn, consistently outperforming baseline approaches (p <= 0.05). Ablation studies confirmed that both the TAFE and CMD modules are essential for improving predictive accuracy. By integrating large-scale pretraining and task-specific fine-tuning, FoundBioNet enables generalizable glioma characterization. This approach enhances diagnostic accuracy and interpretability, with the potential to enable more personalized patient care.
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