用表型知识引导深度学习,让病理图像分析更可解释、更可信。
PA-MIL: Phenotype-Aware Multiple Instance Learning Guided by Language Prompting and Genotype-to-Phenotype Relationships
- 基于表型-基因型关系构建知识库,用语言提示聚合特征
- 在多个数据集上表现媲美顶尖方法,且可解释性更强
- 适合关注可解释医疗AI的临床研究者和算法开发者
深度学习在病理全切片图像(WSIs)分析中广泛应用,但现有方法多依赖事后定位模型关注区域来提供可解释性,缺乏可靠且可问责的解释。本文提出表型感知的多重实例学习框架(PA-MIL),通过识别WSIs中的癌症相关表型并用于癌症亚型分类。为辅助PA-MIL学习表型感知特征,我们:1)构建包含癌症相关表型及其关联基因型的表型知识库;2)利用表型形态描述作为语言提示,聚合表型相关特征;3)设计基于表型-基因型关系的基因型-表型神经网络(GP-NN),为PA-MIL提供多层级指导。在多个数据集上的实验表明,PA-MIL性能媲美现有MIL方法,同时具备更高可解释性。该方法以表型显著性为证据,结合线性分类器,达到与最先进方法相当的结果。此外,我们深入分析了基因型-表型关系,以及队列级与病例级可解释性,验证了PA-MIL的可靠性与问责性。
原文摘要 · Abstract (English)
Deep learning has been extensively researched in the analysis of pathology whole-slide images (WSIs). However, most existing methods are limited to providing prediction interpretability by locating the model's salient areas in a post-hoc manner, failing to offer more reliable and accountable explanations. In this work, we propose Phenotype-Aware Multiple Instance Learning (PA-MIL), a novel ante-hoc interpretable framework that identifies cancer-related phenotypes from WSIs and utilizes them for cancer subtyping. To facilitate PA-MIL in learning phenotype-aware features, we 1) construct a phenotype knowledge base containing cancer-related phenotypes and their associated genotypes. 2) utilize the morphological descriptions of phenotypes as language prompting to aggregate phenotype-related features. 3) devise the Genotype-to-Phenotype Neural Network (GP-NN) grounded in genotype-to-phenotype relationships, which provides multi-level guidance for PA-MIL. Experimental results on multiple datasets demonstrate that PA-MIL achieves competitive performance compared to existing MIL methods while offering improved interpretability. PA-MIL leverages phenotype saliency as evidence and, using a linear classifier, achieves competitive results compared to state-of-the-art methods. Additionally, we thoroughly analyze the genotype-phenotype relationships, as well as cohort-level and case-level interpretability, demonstrating the reliability and accountability of PA-MIL.
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