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在中国多种固体瘤类型中,DNA不匹配修复缺陷的流行率

Xiaohua Shi¹, Xianghong Yang², Jingping Yun³

¹Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Journal of evidence-based medicine

|November 28, 2025

概括

缺陷DNA不匹配修复 (dMMR) 的患病率在中国患者的高级固体瘤中有所不同. 子宫内膜瘤显示了最高的dMMR率,强调了对治疗决策进行dMMR测试的必要性.

科学领域:

在瘤学瘤学.
分子生物学分子生物学
癌症生物标志物癌症生物标志物

背景情况:

缺陷的DNA不匹配修复 (dMMR) 驱动微卫星不稳定性 (MSI),导致高瘤突变率和新抗原.
对于选择符合免疫检查点抑制剂 (ICI) 治疗条件的患者,dMMR鉴定至关重要.
关于非结肠直肠癌的dMMR患病率的数据有限,特别是在中国人群中.

研究的目的:

确定中国患者中五种特定的胃肠道和妇科瘤类型中dMMR的患病率.
为了解中国各种高级固体瘤的dMMR状况提供见解.

主要方法:

使用Ventana MMR RxDx面板的免疫组织化学被用于测试来自748名中国患者的组织样本.
瘤类型包括先进的子宫内膜,卵巢,宫,胆道和胃癌.
数据分析的重点是确定每个瘤类型的dMMR患病率.

主要成果:

在五种瘤类型中,dMMR的总体患病率为9.4%.
子宫内膜瘤的dMMR患病率最高 (29.9%),子宫瘤的患病率最低 (2.7%).
在dMMR人群中,MLH1和PMS2蛋白质损失是最常见的dMMR变异 (68.6%).

结论:

在中国,对于晚期固体瘤,dMMR检测很重要.
这些发现有助于优化生物标志物测试,并为中国癌症患者的治疗决策提供信息.

关键词:

中国中国中国中国.DNA不匹配修复缺陷的缺陷流行病学流行病学免疫检查点抑制剂免疫检查点抑制剂微卫星的不稳定性患病率的流行情况.

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