Department of Thoracic Medicine, Chang Gung Foundation, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Thorac Cancer. 2021 Dec;12(24):3429-3432. doi: 10.1111/1759-7714.14215. Epub 2021 Nov 2.
Tyrosine kinase inhibitors (TKIs) of epidermal growth factor receptor (EGFR) are the standard treatment for lung cancer patients with activating EGFR mutation. The traditional direct polymerase chain reaction (PCR) has lower sensitivity in the detection of EGFR mutations in patient tissue samples. Whilst PCR amplification kits increase the sensitivity in detecting some types of EGFR mutations, not many types of rare mutations are found. Here, we report a patient who had lung adenocarcinoma harboring EGFR T751_I759delinsS mutation and had good response to afatinib initially and osimertinib after developing resistance to afatinib. This rare EGFR mutation was not detected by Scorpion and ARMS method but was found using the next-generation sequencing method. There are less prospective trials in the treatment of lung adenocarcinoma with very rare EGFR mutations. Our case report could therefore provide clinical experience to the clinicians in the management of their patients.
表皮生长因子受体（EGFR）酪氨酸激酶抑制剂（TKIs）是具有激活 EGFR 突变的肺癌患者的标准治疗方法。传统的直接聚合酶链反应（PCR）在检测患者组织样本中的 EGFR 突变时灵敏度较低。虽然 PCR 扩增试剂盒提高了检测某些类型 EGFR 突变的灵敏度，但并未发现很多罕见突变类型。在这里，我们报告了一名患有肺腺癌的患者，该患者携带 EGFR T751_I759delinsS 突变，最初对阿法替尼有良好的反应，对阿法替尼耐药后对奥希替尼也有良好的反应。这种罕见的 EGFR 突变未通过 Scorpion 和 ARMS 方法检测到，但通过下一代测序方法发现。针对非常罕见的 EGFR 突变的肺腺癌治疗的前瞻性试验较少。因此，我们的病例报告可以为临床医生管理患者提供临床经验。
