arXiv:2502.00568cs.CVcs.AI2025-02被引 8

用病理图像生成基因表达数据,提升癌症诊断与预后预测效果

Generating crossmodal gene expression from cancer histopathology improves multimodal AI predictions

  • 基于扩散模型从病理切片生成基因表达数据
  • 生成数据使分型和生存风险预测准确率显著提升(p<0.05)
  • 结果接近真实基因数据,适合临床多模态AI研究者使用

人工智能融合数字病理与转录组特征可改善癌症诊断(分级/分型)与预后(生存风险)预测。但临床中转录组检测罕见,直接融合不现实。我们在TCGA和CPTAC两个公开数据集的四个独立队列(胶质瘤-胶质母细胞瘤、肾癌、子宫癌、乳腺癌)上实验,发现结合通过全切片图像(WSI)生成的转录组数据后,分级与风险估计性能显著提升(p值<0.05)。且使用生成特征的预测结果与真实转录组数据无统计差异(p值>0.05),跨队列一致。本研究提出基于扩散模型的跨模态生成框架PathGen,能高精度、高置信度(保形覆盖保证)、可解释(分布注意力图)地联合预测癌症分级与生存风险,达到当前最优表现。代码已开源:https://github.com/Samiran-Dey/PathGen。

原文摘要 · Abstract (English)

Emerging research has highlighted that artificial intelligence-based multimodal fusion of digital pathology and transcriptomic features can improve cancer diagnosis (grading/subtyping) and prognosis (survival risk) prediction. However, such direct fusion is impractical in clinical settings, where histopathology remains the gold standard and transcriptomic tests are rarely requested in public healthcare. We experiment on two publicly available multimodal datasets, The Cancer Genomic Atlas and the Clinical Proteomic Tumor Analysis Consortium, spanning four independent cohorts: glioma-glioblastoma, renal, uterine, and breast, and observe significant performance gains in gradation and risk estimation (p-value<0.05) when incorporating synthesized transcriptomic data with WSIs. Also, predictions using synthesized features were statistically close to those obtained with real transcriptomic data (p-value>0.05), consistently across cohorts. Here we show that with our diffusion based crossmodal generative AI model, PathGen, gene expressions synthesized from digital histopathology jointly predict cancer grading and patient survival risk with high accuracy (state-of-the-art performance), certainty (through conformal coverage guarantee) and interpretability (through distributed co-attention maps). PathGen code is available for open use on GitHub at https://github.com/Samiran-Dey/PathGen.

多模态学习病理图像基因表达生成模型

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