Department of Respiratory Medicine, Second Affiliated Hospital of Zhejiang University, School of Medicine, Hangzhou, 310052, Zhejiang, China.
Burning Rock Biotech, Guangzhou, China.
Lung Cancer. 2020 Dec;150:9-11. doi: 10.1016/j.lungcan.2020.09.017. Epub 2020 Sep 25.
EGFR mutations, primarily sensitizing mutations such as exon 19 deletion and exon 21 point mutations, have been proven to act as predictive biomarkers for the response to tyrosine kinase inhibitors (TKIs). How patients harboring EGFR L747 P (a rare mutation located in exon 19) respond to EGFR-TKI is controversial. Some studies have described EGFR L747 P as providing intrinsic resistance to EGFR-TKIs, but others support this rare mutation as a sensitive mutation. Hence, we reported a patient with advanced lung adenocarcinoma harboring an EGFR L747 P who benefited from first-line treatment with gefitinib. This patient achieved stable disease (SD) and had a progression-free survival (PFS) of 18 months. After disease progression, this patient was subsequently administered osimertinib and responded, as evidenced by a significant reduction in nodular lesions. This case revealed that EGFR L747 P rendered both gefitinib and osimertinib therapeutically efficacious.
表皮生长因子受体（EGFR）突变，主要是敏感突变，如外显子 19 缺失和外显子 21 点突变，已被证明可作为对酪氨酸激酶抑制剂（TKI）反应的预测生物标志物。携带 EGFR L747P（位于外显子 19 中的罕见突变）的患者对 EGFR-TKI 的反应存在争议。一些研究将 EGFR L747P 描述为对 EGFR-TKI 的固有耐药，但也有研究支持这种罕见突变是敏感突变。因此，我们报告了一例晚期肺腺癌患者携带 EGFR L747P，该患者接受吉非替尼一线治疗获益。该患者达到疾病稳定（SD），无进展生存期（PFS）为 18 个月。疾病进展后，该患者随后接受奥希替尼治疗并有效应答，表现为结节性病变显著缩小。该病例表明，EGFR L747P 使吉非替尼和奥希替尼均具有治疗效果。
