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在卵巢癌中识别可向EGFR突变

Arjan Gower¹, Susan Win², Rituparna Ganguly³

¹Division of Hematology and Oncology, University of California Los Angeles, Los Angeles, CA.

JCO precision oncology

|September 10, 2025

概括

皮表皮生长因子受体 (EGFR) 突变在卵巢癌中很罕见,发生在0.08%的病例中. 然而,这些突变代表了EGFR导向治疗的可操作目标,如osimertinib.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
基因组学就是基因组学.

背景情况:

皮表皮生长因子受体 (EGFR) 突变是非小细胞肺癌 (NSCLC) 的成熟驱动因素.
针对EGFR的疗法显著改善了这些突变的NSCLC患者的治疗结果.
卵巢癌中EGFR突变的患病率和临床相关性在很大程度上仍未被描述.

研究的目的:

确定卵巢癌中致病性或可能致病性EGFR突变的现实流行率.
为了确定卵巢癌队列中的特定EGFR变异.
报告患有转移性卵巢癌的病例,EGFR突变对 osimertinib 有反应.

主要方法:

追溯分析33,850个卵巢癌样本,这些样本在2016年至2025年期间接受了下一代测序 (NGS).
根据已建立的数据库,识别致病或可能致病的EGFR突变.
对已确定EGFR突变的患者进行临床数据审查.

主要成果:

在33,850名 (0.08%) 卵巢癌患者中,有27名发现了致病或可能致病的EGFR突变.
常见的EGFR变异包括外原体20突变 (n=12),L858R (n=3) 和外原体19缺失 (n=2).
一名患有转移性卵巢癌和EGFR突变的患者经历了耐久的客观反应 (> 17个月) 对奥西默提尼布.

结论:

瘤性EGFR突变是卵巢癌中罕见但可采取行动的发现.
包括NGS在内的全面基因组分析对于识别卵巢癌管理中的这些罕见,可向的变异是有价值的.
针对EGFR的疗法对具有特定EGFR突变的卵巢癌患者的一个子集具有潜在的治疗价值.

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