Eriseld Krasniqi, Lorena Filomeno, Teresa Arcuri, Gianluigi Ferretti, Simona Gasparro, Alberto Fulvi, Arianna Roselli, Loretta D'Onofrio, Laura Pizzuti, Maddalena Barba, Marcello Maugeri-Saccà, Claudio Botti, Franco Graziano, Ilaria Puccica, Sonia Cappelli, Fabio Pelle, Flavia Cavicchi, Amedeo Villanucci, Ida Paris, Fabio Calabrò, Sandra Rea, Maurizio Costantini, Letizia Perracchio, Giuseppe Sanguineti, Silvia Takanen, Laura Marucci, Laura Greco, Rami Kayal, Luca Moscetti, Elisa Marchesini, Nicola Calonaci, Giovanni Blandino, Giulio Caravagna, Patrizia Vici
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引用次数: 0
Abstract
Background: Pathological complete response (pCR) to neoadjuvant systemic therapy (NAST) is an established prognostic marker in breast cancer (BC). Multimodal deep learning (DL), integrating diverse data sources (radiology, pathology, omics, clinical), holds promise for improving pCR prediction accuracy. This systematic review synthesizes evidence on multimodal DL for pCR prediction and compares its performance against unimodal DL.
Methods: Following PRISMA, we searched PubMed, Embase, and Web of Science (January 2015-April 2025) for studies applying DL to predict pCR in BC patients receiving NAST, using data from radiology, digital pathology (DP), multi-omics, and/or clinical records, and reporting AUC. Data on study design, DL architectures, and performance (AUC) were extracted. A narrative synthesis was conducted due to heterogeneity.
Results: Fifty-one studies, mostly retrospective (90.2%, median cohort 281), were included. Magnetic resonance imaging and DP were common primary modalities. Multimodal approaches were used in 52.9% of studies, often combining imaging with clinical data. Convolutional neural networks were the dominant architecture (88.2%). Longitudinal imaging improved prediction over baseline-only (median AUC 0.91 vs. 0.82). Overall, the median AUC across studies was 0.88, with 35.3% achieving AUC ≥ 0.90. Multimodal models showed a modest but consistent improvement over unimodal approaches (median AUC 0.88 vs. 0.83). Omics and clinical text were rarely primary DL inputs.
Conclusion: DL models demonstrate promising accuracy for pCR prediction, especially when integrating multiple modalities and longitudinal imaging. However, significant methodological heterogeneity, reliance on retrospective data, and limited external validation hinder clinical translation. Future research should prioritize prospective validation, integration underutilized data (multi-omics, clinical), and explainable AI to advance DL predictors to the clinical setting.
背景:病理完全缓解(pCR)对新辅助全身治疗(NAST)是乳腺癌(BC)的预后指标。多模式深度学习(DL)整合了不同的数据源(放射学、病理学、组学、临床),有望提高pCR预测的准确性。本系统综述综合了pCR预测的多模态DL的证据,并比较了其与单模态DL的性能。方法:遵循PRISMA,我们检索PubMed、Embase和Web of Science(2015年1月- 2025年4月),寻找应用DL预测接受NAST的BC患者pCR的研究,使用来自放射学、数字病理学(DP)、多组学和/或临床记录的数据,并报告AUC。提取研究设计、深度学习架构和性能(AUC)的数据。由于异质性,进行了叙事综合。结果:纳入51项研究,多数为回顾性研究(90.2%,中位队列281)。磁共振成像和DP是常见的主要方式。52.9%的研究采用多模式入路,通常将影像学与临床资料相结合。卷积神经网络占主导地位(88.2%)。纵向成像改善了仅基线预测(中位AUC 0.91比0.82)。总体而言,所有研究的中位AUC为0.88,35.3%达到AUC≥0.90。与单模态方法相比,多模态模型显示出适度但一致的改善(中位AUC 0.88 vs. 0.83)。组学和临床文献很少是DL的主要输入。结论:DL模型在pCR预测中表现出良好的准确性,特别是在整合多种模式和纵向成像时。然而,显著的方法学异质性、对回顾性数据的依赖以及有限的外部验证阻碍了临床翻译。未来的研究应优先考虑前瞻性验证,整合未充分利用的数据(多组学,临床),以及可解释的人工智能,以将深度学习预测器推进到临床环境。
期刊介绍:
Biology Direct serves the life science research community as an open access, peer-reviewed online journal, providing authors and readers with an alternative to the traditional model of peer review. Biology Direct considers original research articles, hypotheses, comments, discovery notes and reviews in subject areas currently identified as those most conducive to the open review approach, primarily those with a significant non-experimental component.