Farinella Riccardo, Felici Alessio, Peduzzi Giulia, Testoni Sabrina Gloria Giulia, Costello Eithne, Aretini Paolo, Blazquez-Encinas Ricardo, Oz Elif, Pastore Aldo, Tacelli Matteo, Otlu Burçak, Campa Daniele, Gentiluomo Manuel
Department of Biology, University of Pisa, Pisa, Italy.
Division of Gastroenterology and Gastrointestinal Endoscopy, IRCCS Policlinico San Donato, Vita-Salute San Raffaele University, Milan, Italy.
Semin Cancer Biol. 2025 Jul;112:71-92. doi: 10.1016/j.semcancer.2025.03.004. Epub 2025 Mar 26.
Pancreatic ductal adenocarcinoma (PDAC) is recognized as one of the most lethal malignancies, characterized by late-stage diagnosis and limited therapeutic options. Risk stratification has traditionally been performed using epidemiological studies and genetic analyses, through which key risk factors, including smoking, diabetes, chronic pancreatitis, and inherited predispositions, have been identified. However, the multifactorial nature of PDAC has often been insufficiently addressed by these methods, leading to limited precision in individualized risk assessments. Advances in artificial intelligence (AI) have been proposed as a transformative approach, allowing the integration of diverse datasets-spanning genetic, clinical, lifestyle, and imaging data into dynamic models capable of uncovering novel interactions and risk profiles. In this review, the evolution of PDAC risk stratification is explored, with classical epidemiological frameworks compared to AI-driven methodologies. Genetic insights, including genome-wide association studies and polygenic risk scores, are discussed, alongside AI models such as machine learning, radiomics, and deep learning. Strengths and limitations of these approaches are evaluated, with challenges in clinical translation, such as data scarcity, model interpretability, and external validation, addressed. Finally, future directions are proposed for combining classical and AI-driven methodologies to develop scalable, personalized predictive tools for PDAC, with the goal of improving early detection and patient outcomes.
胰腺导管腺癌(PDAC)被认为是最致命的恶性肿瘤之一,其特征是诊断时已处于晚期且治疗选择有限。传统上,风险分层是通过流行病学研究和基因分析来进行的,通过这些方法已确定了包括吸烟、糖尿病、慢性胰腺炎和遗传易感性在内的关键风险因素。然而,这些方法往往没有充分考虑PDAC的多因素性质,导致个体风险评估的准确性有限。人工智能(AI)的进展被提议作为一种变革性方法,它能够将涵盖基因、临床、生活方式和影像数据的各种数据集整合到动态模型中,从而揭示新的相互作用和风险特征。在这篇综述中,我们探讨了PDAC风险分层的演变,将经典的流行病学框架与人工智能驱动的方法进行了比较。讨论了基因方面的见解,包括全基因组关联研究和多基因风险评分,以及机器学习、放射组学和深度学习等人工智能模型。评估了这些方法的优势和局限性,并探讨了临床转化过程中面临的挑战,如数据稀缺、模型可解释性和外部验证等问题。最后,我们提出了未来的发展方向,即结合经典方法和人工智能驱动的方法,开发可扩展的、个性化的PDAC预测工具,以改善早期检测和患者预后。