Molecular Pathology, Artificial Intelligence, and New Technologies in Hematologic Diagnostics: Translational Opportunities and Practical Considerations

分子病理学、人工智能和血液学诊断新技术:转化机遇与实践考量

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Abstract

Background and Objectives: Diagnostics for hematologic diseases rely on integrated assessment of clinical manifestation, morphology, flow cytometry, and molecular testing. Current classification systems, including the WHO HAEM5 and the International Consensus Classification, highlight the central role of genomics in defining disease entities and risk. Simultaneously, laboratories face growing case complexity and staffing challenges. Automation, collaborative robots (cobots), digital morphology platforms, and artificial intelligence (AI) have begun to address these issues. Here we examine the application of these technologies in hematopathology and molecular diagnostics and consider their translational potential to improve diagnostic accuracy and, ultimately, patient care. Methods: A review of peer-reviewed literature and technical reports published through December 2025 was performed, focusing on digital morphology platforms, AI for peripheral blood and marrow interpretation, AI-enabled flow cytometry, automated and robotic deployments in clinical laboratories, and machine learning applications in molecular hematopathology. Results: Digital morphology analyzers show strong concordance with manual microscopy and now serve as efficient platforms for AI-assisted differentials, cell classification, and fibrosis quantification. Deep learning applied to multiparameter flow cytometry achieves performance comparable to expert review in distinguishing mature B-cell neoplasms and acute leukemias. Automated solutions, cobot systems and robotic-arm-based slide-scanning clusters have demonstrated substantial gains in throughput and pre-analytic consistency. AI models in molecular hematopathology increasingly assist with variant interpretation, genetic risk stratification, and linking morphologic and genomic findings. Conclusions: AI is beginning to change how hematopathology and molecular diagnostics are practiced. Successful translation will depend on disease-specific validation, the development of multi-modal models aligned with ICC and WHO frameworks, and laboratory governance that maintains expert oversight.

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