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在患有转移性癌症的患者中,通过下一代测序确定了表皮生长因子受体异常

Minkyue Shin^1,2, Dae-Ho Choi¹, Jaeyun Jung¹

¹Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Cancer research and treatment

|February 25, 2025

概括

在6.4%的转移性固体瘤中,发现了表皮生长因子受体 (EGFR) 异常,包括放大,突变和融合. 这些变化与其他基因组变化有关,影响了潜在的癌症疗法.

科学领域:

在瘤学瘤学.
基因组学就是基因组学.
分子生物学分子生物学

背景情况:

表皮生长因子受体 (EGFR) 是各种癌症中验证的治疗点.
了解EGFR异常及其与其他基因组变异的同时发生的情况对于推进精确瘤学至关重要.

研究的目的:

在患有转移性固体瘤的患者中调查表皮生长因子受体 (EGFR) 异常 (放大,突变,融合) 的患病率和类型.
探索EGFR异常和其他基因组变异之间的关联,包括微卫星不稳定性 (MSI) 和瘤突变负担 (TMB).

主要方法:

利用了来自3286名转移性癌症患者的下一代测序 (NGS) 的现实数据.
分析了EGFR放大,突变和融合频率以及它们与MSI,TMB和其他基因异常的相关性,使用523基因小组 (TSO500).

主要成果:

在6.4%的患者中检测到EGFR异常:5.3%的患者有EGFR放大,1.2%的患者有EGFR突变,0.2%的患者有EGFR融合.
仅在微卫星稳定 (MSS) 瘤中发现EGFR放大,并且经常与其他基因放大或突变同时发生.
在一组患者中,EGFR突变与高微卫星不稳定性 (MSI-高) 和高瘤突变负担 (TMB) 相关.

结论:

EGFR异常存在于转移性实体瘤的显著部分,放大是最常见的.
EGFR异常与其他基因组变异的同时发生凸显了这些瘤的复杂性,并表明有针对性的组合疗法的潜力.

关键词:

欧洲农业基准基金放大功率欧洲农业基金合并 (EGFR)在EGFR的突变.高通量核酸测序的测序预测预后预测预测现实世界的数据数据.

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