细菌系21 EGFR V831H突变突变在先进NSCLC对almonertinib的耐药性:一个病例报告
Daxia Cai1, Jian Lou1, Yanyan Zhu2
1Cancer Center, Lishui Central Hospital, The Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Hospital of Zhejiang University, Lishui, China.
Frontiers in oncology
|March 6, 2026
概括
肺癌中的生殖系EGFR V831H突变很少见,可能导致对EGFR氨酸激酶抑制剂 (TKI) 的初级耐药性. 这一案例凸显了用这种特定EGFR突变治疗非小细胞肺癌的挑战.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 药理学 药理学是指药理学的学科.
背景情况:
- 细菌系表皮生长因子受体 (EGFR) 突变在癌症中不常见,对它们对氨酸激酶抑制剂 (TKI) 反应的影响的理解有限.
- EGFR V831H变异异常见,表现出构成性活性,但缺乏足够的治疗敏感性数据.
研究的目的:
- 报告一个先进的非小细胞肺癌 (NSCLC) 病例,该病例具有生殖系EGFR V831H突变.
- 研究这种罕见突变对EGFR-TKI治疗的临床意义和治疗反应.
主要方法:
- 一名患有IIIB期肺腺癌的患者接受了成像,组织病理学和全面的基因组分析.
- EGFR V831H突变的生殖系起源在患者和家庭样本上使用桑格测序得到证实.
- 治疗包括抗结核疗法,其次是第三代EGFR-TKI的almonertinib.
主要成果:
- 这位患者同时出现了KRAS G12V突变和潜伏的结核病感染.
- 尽管接受了阿尔蒙尼蒂尼布治疗,疾病进展迅速 (20天内),表明原发性耐药性.
- 患者出现了新的大脑转移,并在治疗开始后一个月死亡.
结论:
- 这种病例表明NSCLC中对almonertinib的初级耐药性,具有生殖系EGFR V831H突变.
- 变种V831H可能会产生固有的TKI耐药性,可能受到同时发生的KRAS突变和药物相互作用的影响.
- 进一步的研究对于开发针对NSCLC罕见的生殖系EGFR突变的有效策略至关重要.
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