整合多组学信息的病理基础模型,提升癌症生物机制理解
EXAONE Path 2.5: Pathology Foundation Model with Multi-Omics Alignment
- 多模态对比学习融合组织图像与基因组等多层数据
- 在80项任务上表现达顶尖水平,临床数据适应性最强
- 适合精准肿瘤学研究者及多组学融合开发人员
癌症进展源于多个生物层面的相互作用,尤其超越形态学、涉及分子层面的信息对仅依赖图像的模型难以捕捉。为此,我们提出EXAONE Path 2.5,一种联合建模组织学、基因组、表观遗传和转录组多模态的病理基础模型,生成更全面反映肿瘤生物学特征的患者表示。方法包含三个核心组件:(1) 多模态SigLIP损失,实现异构模态间的全配对对比学习;(2) 片段感知旋转位置编码(F-RoPE),保留全切片图像(WSI)的空间结构与组织片段拓扑;(3) 针对WSI与RNA-seq的领域专用内部基础模型,提供生物合理的嵌入以增强多模态对齐。我们在两个互补基准上评估该模型:一个内部真实临床数据集和覆盖80项任务的Patho-Bench基准。结果表明,其在数据与参数效率方面表现优异,在Patho-Bench上性能与当前最先进模型相当,且在内部临床设置中展现出最高适应性。这些结果凸显了生物驱动的多模态设计价值,并支持整合基因型到表型建模在下一代精准肿瘤学中的潜力。
原文摘要 · Abstract (English)
Cancer progression arises from interactions across multiple biological layers, especially beyond morphological and across molecular layers that remain invisible to image-only models. To capture this broader biological landscape, we present EXAONE Path 2.5, a pathology foundation model that jointly models histologic, genomic, epigenetic and transcriptomic modalities, producing an integrated patient representation that reflects tumor biology more comprehensively. Our approach incorporates three key components: (1) multimodal SigLIP loss enabling all-pairwise contrastive learning across heterogeneous modalities, (2) a fragment-aware rotary positional encoding (F-RoPE) module that preserves spatial structure and tissue-fragment topology in WSI, and (3) domain-specialized internal foundation models for both WSI and RNA-seq to provide biologically grounded embeddings for robust multimodal alignment. We evaluate EXAONE Path 2.5 against six leading pathology foundation models across two complementary benchmarks: an internal real-world clinical dataset and the Patho-Bench benchmark covering 80 tasks. Our framework demonstrates high data and parameter efficiency, achieving on-par performance with state-of-the-art foundation models on Patho-Bench while exhibiting the highest adaptability in the internal clinical setting. These results highlight the value of biologically informed multimodal design and underscore the potential of integrated genotype-to-phenotype modeling for next-generation precision oncology.
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