EGFR突变的间隙异质性:系统性审查和元分析
Diana Ivonne Rodríguez Sánchez1,2, Selin Asli Öztürk1, Olga Maxouri1,2
1Department of Radiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Molecular diagnosis & therapy
|February 5, 2026
概括
表皮生长因子受体 (EGFR) 突变异调发生在16.1%的实体瘤中,影响治疗决策. 这一速率因活检类型,TKI暴露和抗药性发展而有显著差异.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 翻译医学是一种翻译医学.
背景情况:
- 激活EGFR突变对于NSCLC和其他固体瘤至关重要,指导TKI治疗.
- 瘤异质性和采样问题可能导致EGFR检测结果不一致,使治疗复杂化.
- 关于EGFR突变不一致的流行率和原因的系统数据有限.
研究的目的:
- 在不同瘤类型和活检策略中系统地审查和元分析EGFR突变异常的流行率和预测因素.
- 在成年固体瘤中提供EGFR异常的全面概述.
主要方法:
- 按照PRISMA指南进行系统审查和元分析,搜索MEDLINE,Embase和Scopus (2004-2024年).
- 包括比较初级与转移性瘤,组织与液体活检或不同液体活检的研究.
- 随机效应元分析用于通过子组分析和元回归来估计聚合不一致率并探索预测因素.
主要成果:
- 154项研究 (15,560名患者) 显示EGFR不一致率为16.1%.
- 液体-液体活检 (34.0%) 的不一致性高于组织-组织 (16.8%) 或组织-液体 (15.5%). 大脑脊髓液的异调是最高的 (35.5%).
- 之前的TKI暴露 (25.8%) 和发展耐药性 (21.0%) 与更高的不一致性有关.
结论:
- 在NSCLC和其他固体瘤中,EGFR突变异调是常见的,受取样,生物流体,治疗和转移部位的影响.
- 由于异质性和研究人口偏见 (NSCLC,亚洲队列),聚合估计是描述性的.
- 对于EGFR向治疗和监测耐药性,建议采用综合和背景意识的采样策略.
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