Nakashima Kazuhisa, Tanaka Seiko, Nakao Mika, Tanino Akari, Amano Yoshihiro, Okimoto Tamio, Isobe Takeshi
Department of Internal Medicine, Division of Medical Oncology and Respiratory Medicine, Shimane University Faculty of Medicine, 89-1 Enya-cho, Izumo, Shimane, 693-8501, Japan.
Respir Med Case Rep. 2025 Jul 1;57:102251. doi: 10.1016/j.rmcr.2025.102251. eCollection 2025.
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors are effective for treating EGFR mutation-positive non-small cell lung cancer. However, the diversity of EGFR mutations presents a challenge, as treatment strategies for rare variants remain undefined. A 29-year-old nonsmoking man presented to his primary physician in September 2019 with back pain. Chest computed tomography revealed multiple nodular lesionsin the right lung and pleura, leading to a diagnosis of lung adenocarcinoma originating in the right middle lobe (cT4N1M1a, stage IVA). Initial testing with the Cobas EGFR Mutation Detection Kit v2.0, using real-time polymerase chain reaction (PCR), yielded negative results for EGFR mutations. The patient was subsequently referred to our hospital for further treatment. In January 2020, he began combination therapy with atezolizumab, bevacizumab, carboplatin, and paclitaxel. Additionally, a bronchoscopy was conducted at our hospital to identify potential undetected driver gene mutations. Next-generation sequencing (NGS) analysis, performed as part of a clinical trial, revealed the presence of pT751_I759 delinsS, a rare EGFR exon 19 deletion-insertion mutation variant. The companion diagnostic test confirmed the mutation through re-examination using the peptide nucleic acid-locked nucleic acid PCR-clamp method. After the previous treatment regimen lost efficacy, osimertinib was initiated in April 2021. Tumor shrinkage was observed, and the treatment was sustained for 11 months. This case involved a young patient diagnosed with lung adenocarcinoma. Given the clinical presentation, a driver gene mutation was strongly suspected. NGS identified the rare mutation pT751_I759delinsS, and the findings suggested the potential efficacy of osimertinib for this variant.
表皮生长因子受体（EGFR）酪氨酸激酶抑制剂对治疗EGFR突变阳性的非小细胞肺癌有效。然而，EGFR突变的多样性带来了挑战，因为罕见变体的治疗策略仍不明确。一名29岁的不吸烟男性于2019年9月因背痛就诊于他的初级医生。胸部计算机断层扫描显示右肺和胸膜有多个结节性病变，导致诊断为起源于右中叶的肺腺癌（cT4N1M1a，IVA期）。使用实时聚合酶链反应（PCR）的Cobas EGFR突变检测试剂盒v2.0进行的初始检测，EGFR突变结果为阴性。该患者随后被转诊至我院进行进一步治疗。2020年1月，他开始接受阿替利珠单抗、贝伐单抗、卡铂和紫杉醇的联合治疗。此外，我院进行了支气管镜检查以识别潜在未检测到的驱动基因突变。作为一项临床试验一部分进行的下一代测序（NGS）分析显示存在pT751_I759 delinsS，这是一种罕见的EGFR外显子19缺失插入突变变体。伴随诊断测试通过使用肽核酸-锁核酸PCR钳夹法重新检测确认了该突变。在先前的治疗方案失去疗效后，奥希替尼于2021年4月开始使用。观察到肿瘤缩小，治疗持续了11个月。该病例涉及一名被诊断为肺腺癌的年轻患者。鉴于临床表现，强烈怀疑存在驱动基因突变。NGS鉴定出罕见突变pT751_I759delinsS，研究结果表明奥希替尼对该变体可能有效。
