肝内胆管癌的分子研究进展及NGS技术对ICC精准治疗的临床应用价值
Advances in Molecular Research on Intrahepatic Cholangiocarcinoma and the Clinical Application Value of NGS Technology in the Precision Treatment of ICC
DOI: 10.12677/acm.2025.152575, PDF,    科研立项经费支持
作者: 马 超, 李 硕, 王光军*：青岛市西海岸新区中心医院普外科，山东 青岛；邹 杰, 王春雷：潍坊市人民医院普外科，山东 潍坊
关键词: 肝内胆管细胞癌；分子分型；第二代基因测序技术；精准治疗；Intrahepatic Cholangiocarcinoma； Molecular Subtyping； Next-Generation Sequencing Technology； Precision Therapy
摘要: 肝内胆管细胞癌(Intrahepatic cholangiocarcinoma, ICC)是一种恶性程度很高的肝脏肿瘤，近年来其发病率和死亡率不断上升。然而，由于缺乏具有代表性的遗传标记以及现有的基因组学研究仍较为有限，ICC的靶向治疗面临较大挑战。随着第二代基因测序技术(Next-generation sequencing, NGS)等先进技术的应用，研究者对ICC中遗传异质性的理解得到了极大的拓展，并已发现多个潜在的基因改变。本综述主要讨论ICC基因改变的最新分子研究进展，梳理和讨论NGS技术在ICC临床研究中的应用，特别是针对单个基因的遗传及表观遗传学改变的研究。特别地，我们探讨了新靶向药物对具有特征性遗传标记的ICC患者的潜在疗效。尽管如此，关于ICC术后复发相关的分子生物标志物仍不明确，仍需进一步深入研究。未来，借助NGS技术深入研究ICC的分子分型以及术后复发相关分子标志物，将有助于为ICC患者提供更加精准的个体化治疗方案。
Abstract: Intrahepatic cholangiocarcinoma (ICC) is a highly malignant liver tumor, with increasing incidence and mortality in recent years. However, due to the lack of representative genetic markers and the limited genomic studies available, effective targeted therapy for ICC remains challenging. With the advent of advanced technologies such as next-generation sequencing (NGS), our understanding of the genetic heterogeneity of ICC has greatly expanded, and several potential genetic alterations have been identified. This review discusses the latest molecular research advancements on genetic alterations in ICC, and provides an overview of clinical findings from NGS technology applied to ICC. It specifically focuses on the genetic and epigenetic changes of individual genes and evaluates the efficacy of new targeted therapies in ICC patients, particularly those with characteristic genetic markers. However, molecular biomarkers related to postoperative recurrence in ICC remain unclear and warrant further investigation. In the future, deeper studies on molecular subtyping and recurrence-related markers of ICC using NGS technology are expected to provide more precise treatment options for ICC patients.
文章引用：马超, 李硕, 邹杰, 王春雷, 王光军. 肝内胆管癌的分子研究进展及NGS技术对ICC精准治疗的临床应用价值[J]. 临床医学进展, 2025, 15(2): 2122-2128. https://doi.org/10.12677/acm.2025.152575

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