医学影像-病理-基因融合的智能分析和诊疗应用
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1中国科学院深圳先进技术研究院生物医学与健康工程研究所, 深圳 518055;2医学成像科学与技术系统全国重点实验室, 深圳 518055;3南京大学脑机接口研究院, 南京 210023

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深圳市医学研究专项资金(A2303008);国家自然科学基金(T2525037, 62201557, 62571523);广东省“特支计划”(2024TX08A213);深圳市科技计划项目(JCYJ20250604183020027, JCYJ20241202125014018);中国科学院战略性先导科技专项(B类)(XDB0930302)。


Medical Imaging-Pathology-Genomic Fusion and Its Applications in Clinical Diagnosis and Treatment
Author:
Affiliation:

1Institute of Biomedical and Health Engineering, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen 518055, China;2State Key Laboratory of Medical Imaging Science and Technology Systems, Shenzhen 518055, China;3Institute of Brain Machine Interface, Nanjing University, Nanjing 210023, China

Fund Project:

Shenzhen Medical Research Fund (No.A2303008); National Natural Science Foundation of China (Nos.T2525037, 62201557, 62571523);Guangdong Special Support Plan (No.2024TX08A213); Shenzhen Science and Technology Program (Nos.JCYJ20250604183020027, JCYJ20241202125014018); Strategic Priority Research Program of the Chinese Academy of Sciences (No.XDB0930302).

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    摘要:

    影像、病理与基因组学分别提供肿瘤的空间形态表型、组织学结构与分子机制信息。单一模态往往受限于尺度割裂、取样偏倚与跨中心域偏移,难以支撑临床决策。针对肿瘤精准诊疗的临床需求,影像-病理-基因融合的核心目标并非简单叠加特征或替代检测,而是实现空间证据、组织学证据与机制证据的同域对齐与一致性校验。本文围绕融合方法学与临床应用两条主线展开综述:在方法学部分,系统讨论多模态融合的临床优势,归纳关键融合范式,强调影像-病理-基因融合在临床诊疗应用中的必要性;在应用部分,以多模态融合补全证据链为核心,总结其在鉴别诊断、分子分型、手术规划、疗效分层与系统化输出中的独特优势,突出融合如何将预测结果转化为可验证、可执行的临床决策。最后,讨论空间组学与多区域采样、纵向演化建模、多模态基础模型与多中心协作验证等关键发展趋势,并提出面向临床转化的建议要点与临床效用评价体系,为下一代肿瘤多模态智能诊疗系统的构建与落地提供建议路线图。

    Abstract:

    Medical imaging, pathology, and genomics respectively provide information on tumor spatial-morphological phenotypes, histopathological architecture, and molecular mechanisms. Single-modal approaches are constrained by scale discrepancies, sampling biases, and cross-center domain shifts, limiting their support for clinical decision-making. For precision oncology, imaging-pathology-genomics integration aims at semantical alignment and consistency validation among macroscopic imaging, microscopic histological, and mechanistic molecular evidence. This review systematically examines the field via fusion methodologies and clinical applications. We discuss the clinical advantages of multimodal integration, summarize key fusion paradigms, and emphasize its clinical necessity. In applications, focusing on completing the clinical evidence chain, we summarize its advantages in differential diagnosis, molecular subtyping, surgical planning, treatment response stratification, and systematic decision output, highlighting how integration turns predictive results into verifiable, actionable clinical decisions via cross-modal validation. Finally, we discuss emerging trends: spatial omics with multi-region sampling, longitudinal tumor evolution modeling, multimodal foundation models, and multi-center collaborative validation. We propose clinical translation recommendations and a utility evaluation system, offering a roadmap for next-generation intelligent multimodal systems in precision oncology.Highlights 1. Imaging-pathology-genomics integration completes the clinical evidence chain by fusing macroscopic, microscopic, and molecular evidence. It transforms fragmented observations into cohesive tumor biology understanding and enables verifiable, actionable decisions, beyond simple feature aggregation.2. Fusion paradigms integrate into oncology workflows: differential diagnosis, molecular subtyping, surgical planning, treatment response stratification, and standardized reporting integrating multimodal predictions into decisions.3. Emerging advances shape next-generation systems: spatial omics with multi-region sampling, longitudinal modeling, multimodal foundation models, and multi-center validation. Combined with translation guidelines and evaluation systems, they provide a deployment roadmap.

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段静娴,赵源深,康梁钰淇,梁栋,郑海荣,李志成.医学影像-病理-基因融合的智能分析和诊疗应用[J].数据采集与处理,2026,(2):416-438

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  • 收稿日期:2026-01-09
  • 最后修改日期:2026-03-11
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  • 在线发布日期: 2026-04-15