Xiao Yuting, Ren Dunqiang, Bi Huanhuan, Zhou Yinxue, Shao Yanmei, Han Weizhong, Na Na, Wang Hongmei
Department of Respiratory and Critical Care Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
Front Oncol. 2025 Apr 16;15:1525885. doi: 10.3389/fonc.2025.1525885. eCollection 2025.
The most common epidermal growth factor receptor (EGFR) mutation in non-small cell lung cancer (NSCLC) is exon 19 deletion (19del), which is sensitive to EGFR tyrosine kinase inhibitors (EGFR-TKIs). However, uncommon EGFR 19del mutations exhibit varied responses to EGFR-TKI treatment. Research and clinical data on these uncommon subtypes are limited. Additionally, resistance to EGFR-TKIs is inevitable. EGFR C797S is a frequent mechanism of resistance to third-generation EGFR-TKIs, usually occurs in cis with T790M and in 5% of patients in trans. Here, we report a patient diagnosed with lung adenocarcinoma harboring EGFR 19Del L747-A755delinsSKD mutation with co-occurring T790M and trans-C797S mutations, who showed a positive response to combination therapy with first- and third-generation TKIs. This case report suggests an effective treatment option for such patients.
非小细胞肺癌（NSCLC）中最常见的表皮生长因子受体（EGFR）突变是19外显子缺失（19del），其对EGFR酪氨酸激酶抑制剂（EGFR-TKIs）敏感。然而，罕见的EGFR 19del突变对EGFR-TKI治疗表现出不同的反应。关于这些罕见亚型的研究和临床数据有限。此外，对EGFR-TKIs产生耐药性是不可避免的。EGFR C797S是对第三代EGFR-TKIs耐药的常见机制，通常与T790M顺式出现，在5%的患者中反式出现。在此，我们报告1例被诊断为肺腺癌的患者，其携带EGFR 19Del L747-A755delinsSKD突变，并同时存在T790M和反式C797S突变，该患者对第一代和第三代TKIs联合治疗表现出阳性反应。本病例报告为此类患者提示了一种有效的治疗选择。
