Gao Yinhu, Wen Peizhen, Liu Yuan, Sun Yahuang, Qian Hui, Zhang Xin, Peng Huan, Gao Yanli, Li Cuiyu, Gu Zhangyuan, Zeng Huajin, Hong Zhijun, Wang Weijun, Yan Ronglin, Hu Zunqi, Fu Hongbing
Department of Gastroenterology, Shaanxi Province Rehabilitation Hospital, Xi'an, Shaanxi, China.
Department of General Surgery, Changzheng Hospital, Navy Medical University, 415 Fengyang Road, Shanghai, 200003, China.
J Transl Med. 2025 Apr 9;23(1):412. doi: 10.1186/s12967-025-06428-z.
Malignant digestive tract tumors are highly prevalent and fatal tumor types globally, often diagnosed at advanced stages due to atypical early symptoms, causing patients to miss optimal treatment opportunities. Traditional endoscopic and pathological diagnostic processes are highly dependent on expert experience, facing problems such as high misdiagnosis rates and significant inter-observer variations. With the development of artificial intelligence (AI) technologies such as deep learning, real-time lesion detection with endoscopic assistance and automated pathological image analysis have shown potential in improving diagnostic accuracy and efficiency. However, relevant applications still face challenges including insufficient data standardization, inadequate interpretability, and weak clinical validation.
This study aims to systematically review the current applications of artificial intelligence in diagnosing malignant digestive tract tumors, focusing on the progress and bottlenecks in two key areas: endoscopic examination and pathological diagnosis, and to provide feasible ideas and suggestions for subsequent research and clinical translation.
A systematic literature search strategy was adopted to screen relevant studies published between 2017 and 2024 from databases including PubMed, Web of Science, Scopus, and IEEE Xplore, supplemented with searches of early classical literature. Inclusion criteria included studies on malignant digestive tract tumors such as esophageal cancer, gastric cancer, or colorectal cancer, involving the application of artificial intelligence technology in endoscopic diagnosis or pathological analysis. The effects and main limitations of AI diagnosis were summarized through comprehensive analysis of research design, algorithmic methods, and experimental results from relevant literature.
In the field of endoscopy, multiple deep learning models have significantly improved detection rates in real-time polyp detection, early gastric cancer, and esophageal cancer screening, with some commercialized systems successfully entering clinical trials. However, the scale and quality of data across different studies vary widely, and the generalizability of models to multi-center, multi-device environments remains to be verified. In pathological analysis, using convolutional neural networks, multimodal pre-training models, etc., automatic tissue segmentation, tumor grading, and assisted diagnosis can be achieved, showing good scalability in interactive question-answering. Nevertheless, clinical implementation still faces obstacles such as non-uniform data standards, lack of large-scale prospective validation, and insufficient model interpretability and continuous learning mechanisms.
Artificial intelligence provides new technological opportunities for endoscopic and pathological diagnosis of malignant digestive tract tumors, achieving positive results in early lesion identification and assisted decision-making. However, to achieve the transition from research to widespread clinical application, data standardization, model reliability, and interpretability still need to be improved through multi-center joint research, and a complete regulatory and ethical system needs to be established. In the future, artificial intelligence will play a more important role in the standardization and precision management of diagnosis and treatment of digestive tract tumors.
恶性消化道肿瘤是全球范围内高度流行且致命的肿瘤类型,由于早期症状不典型,常被诊断为晚期,导致患者错过最佳治疗时机。传统的内镜和病理诊断过程高度依赖专家经验,面临误诊率高和观察者间差异大等问题。随着深度学习等人工智能(AI)技术的发展,在内镜辅助下的实时病变检测和自动化病理图像分析在提高诊断准确性和效率方面显示出潜力。然而,相关应用仍面临数据标准化不足、可解释性不够和临床验证薄弱等挑战。
本研究旨在系统综述人工智能在恶性消化道肿瘤诊断中的当前应用,重点关注内镜检查和病理诊断这两个关键领域的进展和瓶颈,并为后续研究和临床转化提供可行的思路和建议。
采用系统的文献检索策略,从包括PubMed、Web of Science、Scopus和IEEE Xplore在内的数据库中筛选2017年至2024年发表的相关研究,并补充早期经典文献的检索。纳入标准包括关于食管癌、胃癌或结直肠癌等恶性消化道肿瘤的研究,涉及人工智能技术在内镜诊断或病理分析中的应用。通过综合分析相关文献的研究设计、算法方法和实验结果,总结了人工智能诊断的效果和主要局限性。
在内镜领域,多个深度学习模型在实时息肉检测、早期胃癌和食管癌筛查中显著提高了检测率,一些商业化系统已成功进入临床试验。然而,不同研究的数据规模和质量差异很大,模型在多中心、多设备环境中的通用性仍有待验证。在病理分析中,使用卷积神经网络、多模态预训练模型等,可以实现自动组织分割、肿瘤分级和辅助诊断,在交互式问答中显示出良好的可扩展性。尽管如此,临床应用仍面临数据标准不统一、缺乏大规模前瞻性验证以及模型可解释性和持续学习机制不足等障碍。
人工智能为恶性消化道肿瘤的内镜和病理诊断提供了新的技术机遇,在早期病变识别和辅助决策方面取得了积极成果。然而,要实现从研究到广泛临床应用的转变,仍需通过多中心联合研究提高数据标准化、模型可靠性和可解释性,并建立完善的监管和伦理体系。未来,人工智能将在消化道肿瘤诊断治疗的标准化和精准管理中发挥更重要的作用。