微卫星不稳定性与结直肠癌发生机制、治疗及预后关系的研究进展

doi:10.3969/j.issn.1004-616x.2024.04.013

癌变·畸变·突变 ›› 2024, Vol. 36 ›› Issue (4): 320-324.doi: 10.3969/j.issn.1004-616x.2024.04.013

• 综述 • 上一篇

微卫星不稳定性与结直肠癌发生机制、治疗及预后关系的研究进展

孔德扬^1,2, 裴炜¹, 冯林^2,3, 张海增^1,2

1. 国家癌症中心/国家肿瘤临床医学研究中心/中国医学科学院北京协和医学院肿瘤医院, 结直肠外科, 北京 100021;
2. 国家癌症中心/国家肿瘤临床医学研究中心/中国医学科学院北京协和医学院肿瘤医院, 分子肿瘤学国家重点实验室, 北京 100021;
3. 国家癌症中心/国家肿瘤临床医学研究中心/中国医学科学院北京协和医学院肿瘤医院, 分子肿瘤学国家重点实验室, 病因及癌变研究室, 北京 100021

收稿日期:2024-02-23 修回日期:2024-05-07 发布日期:2024-08-06
通讯作者: 张海增
作者简介:孔德扬，E-mail：kdy0304@163.com。
基金资助:
中国医学科学院医学与健康科技创新工程项目(2021-I2M-1-021；2021-I2M-1-018)

Received:2024-02-23 Revised:2024-05-07 Published:2024-08-06

摘要/Abstract

摘要： 微卫星不稳定(MSI)型结直肠癌(CRC)是一种由DNA错配修复系统缺陷引起的肿瘤亚型，约占所有结直肠癌的15%。MSI CRC在临床和病理学上表现出独特的特点，包括更频繁地出现在近端结肠、分化程度低、肿瘤分期较早、高BRAF突变率和淋巴细胞浸润等。MSI CRC具有特殊的肿瘤微环境，特别是免疫及耗竭相关基因的高表达，为免疫检查点阻断治疗(ICB)提供了理想靶标，从而能够在免疫治疗中显著受益。虽然MSI通常与早期CRC患者的良好预后相关，但在转移性疾病中可能指示了不良的预后。当前研究凸显了微卫星状态与BRAF突变状态结合作为预后生物标志物的重要性，并表明BRAF突变可能减弱MSI相关的预后优势。MSI CRC显示出对包括5-氟尿嘧啶和表皮生长因子受体(EGFR)抗体等传统治疗药物的抵抗性，但对抗血管内皮生长因子(VEGF)治疗反应更为积极。随着对MSI CRC认识的加深，ICB治疗正在成为一二线治疗以及新辅助治疗的重要策略，为患者提供了一种可能替代传统方法的治疗选择。本文综述了MSI在CRC发生机制、临床病理特征、肿瘤微环境特征、临床治疗及预后等多方面的研究进展，阐明了MSI在CRC治疗策略和疗效预测中的重要意义，强调了根据不同微卫星状态对CRC进行个性化治疗的必要性。

关键词: 微卫星不稳定型结直肠癌, 发生机制, 临床特点, 免疫微环境, 免疫治疗

中图分类号:

R735.3

孔德扬, 裴炜, 冯林, 张海增. 微卫星不稳定性与结直肠癌发生机制、治疗及预后关系的研究进展[J]. 癌变·畸变·突变, 2024, 36(4): 320-324.

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微卫星不稳定性与结直肠癌发生机制、治疗及预后关系的研究进展

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