大数据驱动的肿瘤病理智能分析:跨越形态学与多组学的诊疗桥梁

Big data-driven intelligent analysis of tumor pathology: a diagnostic and therapeutic bridge across morphology and multi-omics

  • 摘要: 系统总结了大数据与人工智能(artificial intelligence,AI)在肿瘤病理智能分析系统中的发展脉络、关键技术与临床转化应用。随着全切片成像(whole slide imaging,WSI)技术的成熟与普及,肿瘤病理分析正经历从传统数字病理(digital pathology,DP)向大数据驱动的AI计算病理学(computational pathology,CP)转型,为精准肿瘤学提供关键技术支撑。这一转型在技术层面体现为从早期的卷积神经网络(convolutional neural network,CNN)向具备全局视野的视觉transformer(vision transformer,ViT)及基础模型(foundation models,FMs)的架构升级,并利用弱监督学习(weakly supervised learning,WSL)与自监督学习(self-supervised learning,SSL)有效突破了高质量标注数据匮乏的瓶颈。在临床层面,AI已在肺癌、乳腺癌等全球高发癌种中广泛实践,不仅通过自动化分级解决了观察者间一致性难题,更展现出挖掘人眼无法识别的亚视觉特征的巨大潜力。多模态融合以及虚拟染色等生成式AI前沿技术的引入,正在进一步通过大同形态学与基因组学、转录组学的壁垒,为肿瘤诊断提供更全面的决策支撑。尽管目前仍需克服域偏移、可解释性及监管伦理等挑战,但建立人机协同的智能诊疗模式正成为提升诊断效率与实现精准医疗的关键演进方向,为跨越形态学与多组学的肿瘤诊疗搭建起核心技术桥梁。

     

    Abstract: This paper systematically summarizes the development context, key technologies, and clinical translation applications of big data and artificial intelligence (AI) in intelligent analysis systems for tumor pathology. With the maturation and popularization of whole slide imaging (WSI) technology, tumor pathology analysis is undergoing a transformation from traditional digital pathology (DP) to big data-driven AI-based computational pathology (CP), providing critical technical support for precision oncology. Technically, this transformation is reflected in the architectural upgrade from early convolutional neural network (CNN) to vision transformer (ViT) with global receptive field and foundation models (FMs). Meanwhile, weakly supervised learning (WSL) and self-supervised learning (SSL) effectively break through the bottleneck of scarce high-quality annotated data. Clinically, AI has been widely applied in globally prevalent cancers such as lung cancer and breast cancer. It not only addresses inter-observer variability through automated grading but also demonstrates considerable potential in identifying subvisual features that are undetectable by human eyes. The introduction of cutting-edge generative AI technologies such as multimodal fusion and virtual staining is further breaking down the barriers between morpho-logy, genomics and transcriptomics, providing more comprehensive decision support for tumor diagnosis. Although challenges such as domain shift, interpretability, and regulatory and ethical concerns remain to be addressed, establishing a human-machine collaborative intelligent diagnosis and treatment model is becoming a key evolutionary direction for improving diagnostic efficiency and realizing precision medicine, building a core technical bridge for tumor diagnosis and treatment across morphology and multi-omics.

     

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