引用文本：林青雨, 蔡世荣. 生物标志物在胃/胃食管结合部腺癌中的研究进展及临床应用[J/CD]. 消化肿瘤杂志（电子版）, 2025, 17(4): 465-470.

作者：林青雨，蔡世荣

单位：中山大学附属第一医院胃肠外科中心，广东 广州 510080

Authors：Lin Qingyu, Cai Shirong

Unit：Gastrointestinal Surgery Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, Guangdong, China

摘要：

胃/胃食管结合部腺癌是一类高度异质性的消化道恶性肿瘤。传统的手术、化学治疗及内镜治疗虽在一定程度上改善了患者的预后，但对于晚期病例疗效有限。近年来，随着分子生物学和免疫学研究的深入，生物标志物在胃/胃食管结合部腺癌中的应用逐渐成为精准治疗的重要基石。本文总结了目前临床实践中较为常用的生物标志物，包括高微卫星不稳定（microsatellite instability-high, MSI-H）/错配修复缺陷（deficient mismatch repair, dMMR）、人表皮生长因子受体2（human epidermal growth factor receptor 2, HER2）、程序性死亡受体配体1（programmed death-ligand 1, PD-L1），并重点介绍了新兴的Claudin18.2（CLDN18.2）与成纤维细胞生长因子受体2b（fibroblast growth factor receptor 2b, FGFR2b）。上述标志物不仅能作为评估预后的指标，还可直接指导靶向及免疫治疗的选择。特别是CLDN18.2和FGFR2b的最新Ⅲ期研究结果，为其纳入指南推荐治疗项目提供了循证支持。总体而言，MSI-H/dMMR、HER2、PD-L1已构成胃/胃食管结合部腺癌分子分型与精准治疗的核心基础。通过对这些标志物的检测，临床医生能够实现更科学的治疗选择，从而显著改善患者预后。未来，随着检测技术的进步与更多临床证据的积累，这些生物标志物将与新兴分子靶点（如CLDN18.2、FGFR2b等）形成互补，共同推动胃/胃食管结合部腺癌患者的治疗进入更为精准和个体化的新时代。

关键词：胃腺癌；胃食管结合部腺癌；高微卫星不稳定；错配修复缺陷；人表皮生长因子受体2；程序性死亡受体配体1；精准治疗

Abstract：

Gastric and gastroesophageal junction (G/GEJ) adenocarcinomas are highly heterogeneous malignancies of the digestive tract. Traditional approaches such as surgery, chemotherapy, and endoscopic treatment have improved prognosis to some extent, but therapeutic efficacy remains limited in advanced cases. In recent years, with the deepening of molecular biology and immunology research, the application of biomarkers in G/GEJ adenocarcinoma has gradually become an essential cornerstone of precision medicine. This review summarizes the most commonly used biomarkers in current clinical practice, including microsatellite instability-high (MSI-H)/ deficient mismatch repair (dMMR), human epidermal growth factor receptor 2 (HER2), and programmed death-ligand 1 (PD-L1), while highlighting emerging targets such as Claudin18.2 (CLDN18.2) and fibroblast growth factor receptor 2b (FGFR2b). These biomarkers not only serve as prognostic indicators but also directly guide the selection of targeted and immunotherapeutic strategies. In particular, the latest phase Ⅲ trial results for CLDN18.2 and FGFR2b provide strong evidence supporting their inclusion in guideline-recommended treatment options. Overall, MSI-H/dMMR, HER2, and PD-L1 have formed the core foundation of molecular subtyping and precision treatment in G/GEJ adenocarcinoma. Through biomarker testing, clinicians can make more evidence-based treatment decisions, thereby significantly improving patient outcomes. Looking ahead, with advances in detection technologies and the accumulation of clinical evidence, these biomarkers, together with emerging molecular targets such as CLDN18.2 and FGFR2b, are expected to complement each other and collectively drive the management of G/GEJ adenocarcinoma into a new era of precision and individualized therapy.

Key words：Gastric adenocarcinoma; Gastroesophageal junction adenocarcinoma; Microsatellite instability-high; Deficient mismatch repair; Human epidermal growth factor receptor 2; Programmed death-ligand 1; Precision therapy

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