Januszewicz Wladyslaw, Nowicki-Osuch Karol
Department of Gastroenterology, Hepatology and Clinical Oncology, Medical Centre for Postgraduate Education, Warsaw, Poland; Department of Oncological Gastroenterology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
German Cancer Research Center (DKFZ) Heidelberg, Tumorigenesis and Molecular Cancer Prevention Group, Germany; DKFZ Hector Cancer Institute at the University Medical Center Mannheim, Germany.
Best Pract Res Clin Gastroenterol. 2025 Mar;75:102005. doi: 10.1016/j.bpg.2025.102005. Epub 2025 Mar 28.
Esophageal squamous cell carcinoma (ESCC) remains a significant global health challenge, with high mortality rates primarily due to late-stage diagnosis. Detecting ESCC at an early stage, when still amenable to endoscopic resection, could potentially improve survival outcomes and help reduce the overall disease burden. However, despite being the gold standard for ESCC diagnosis, conventional endoscopy has several limitations that hinder its widespread implementation for screening purposes. These include high-costs, invasiveness, suboptimal sensitivity in identifying precancerous lesions, and prerequisite specialized personnel and facilities. In this review, we aim to discuss the current ESCC screening practices and explore emerging screening methods incorporating novel diagnostic devices and biomarkers. We first present advancements in endoscopic imaging techniques aimed at improving diagnostic accuracy and reducing operator dependency. These include artificial intelligence (AI)-assisted endoscopy, which enhances lesion detection, and confocal laser endomicroscopy, which enables real-time cellular-level assessment. Next, we explore the available non-endoscopic screening modalities such as swallowable cytology-based sampling devices. These minimally invasive tools, when combined with AI-assisted cytological analysis and molecular biomarkers, offer a viable alternative to conventional biopsy for early ESCC detection. We then provide an overview of circulating biomarkers, including circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), microRNAs, and protein-based markers, summarizing the current state of research on liquid biopsies and their potential role in ESCC screening. Additionally, we discuss breath and salivary diagnostics as emerging cost-effective, non-invasive approaches. Finally, we present the latest insights into tissue biomarkers, highlighting their relevance in identifying precancerous lesions and stratifying risk in ESCC screening.
食管鳞状细胞癌（ESCC）仍然是一项重大的全球健康挑战，死亡率高，主要原因是晚期诊断。在仍可进行内镜切除的早期阶段检测到ESCC，有可能改善生存结果并有助于减轻总体疾病负担。然而，尽管传统内镜检查是ESCC诊断的金标准，但它有几个局限性，阻碍了其在筛查中的广泛应用。这些局限性包括成本高、具有侵入性、在识别癌前病变方面敏感性欠佳，以及需要专业人员和设施。在本综述中，我们旨在讨论当前的ESCC筛查实践，并探索纳入新型诊断设备和生物标志物的新兴筛查方法。我们首先介绍旨在提高诊断准确性和减少对操作者依赖的内镜成像技术的进展。这些技术包括人工智能（AI）辅助内镜检查，可增强病变检测，以及共聚焦激光内镜显微镜检查，可实现实时细胞水平评估。接下来，我们探索可用的非内镜筛查方式，如基于可吞咽细胞学的采样设备。这些微创工具与AI辅助细胞学分析和分子生物标志物相结合，为早期ESCC检测提供了一种可行的替代传统活检的方法。然后，我们概述循环生物标志物，包括循环肿瘤DNA（ctDNA）、循环肿瘤细胞（CTC）、微小RNA和基于蛋白质的标志物，总结液体活检的当前研究状况及其在ESCC筛查中的潜在作用。此外，我们讨论呼吸和唾液诊断作为新兴的具有成本效益的非侵入性方法。最后，我们介绍组织生物标志物的最新见解，强调它们在识别癌前病变和ESCC筛查中分层风险方面的相关性。
