Department of Oncology, The Second Affiliated Hospital of Nanchang University, Nanchang, China; Medical School of Nanchang University, Nanchang, China.
Department of Ultrasound, The Second Affiliated Hospital of Nanchang University, Nanchang, China; JiangXi Key Laboratory of Clinical and Translational Cancer Research, 1 Minde Road, Nanchang, Jiangxi, China.
Curr Probl Cancer. 2021 Oct;45(5):100702. doi: 10.1016/j.currproblcancer.2020.100702. Epub 2021 Jan 9.
While 50% of lung adenocarcinoma patients in Asia have mutations in the epidermal growth factor receptor (EGFR) site, there are few patients with the EGFR mutation accompanied by de novo mesenchymal-epithelial transition (MET) amplification. Due to the low incidence rate, there is no consensus regarding treatment. Here, a case of a 62-year-old never smoker presented with EGFR Exon19del and de novo MET amplification. A radiographic examination and computed tomography (CT) imaging were conducted on the chest and middle abdomen. A pulmonary puncture was performed and a sample of the lung tissue was used for pathologic diagnosis. Immunohistochemistry was performed for the expression of CK, P40, P63, ttf-1, NapsinA, alk-d5f3, and ki-67 on the cancer cells. Craniocerebral magnetic resonance and whole body bone imaging were completed. Second-generation gene sequencing (next-generation sequencing [NGS]) and fluorescence in situ hybridization examination were also performed to further characterize the cancer cells. A radiographic examination was performed and revealed space-occupying lesions in the lungs. CT results revealed a mass in the upper lobe of the left lung. The pathologic diagnosis was non-small cell carcinoma T3N2M1a. Second-generation gene sequencing (NGS) indicated EGFR Exon 19del (p.E746_A750del, mutant abundance: 13.99%) with de novo MET amplification (CHR: q31.2, CN = 4.0). Fluorescence in situ hybridization examination confirmed MET amplification. Targeted therapy with gefitinib combined with crizotinib was administered as treatment. Four weeks later, the CT results revealed a substantial reduction in the lesion size. The patient was followed up with favorable complete recovery and no tumor-related symptoms. Although crizotinib is efficacious when used alone in follow-up treatment; however, these results of this case and others indicate that it is likely safe to use both drugs together in the case of drug resistance.
虽然亚洲 50%的肺腺癌患者存在表皮生长因子受体（EGFR）位点突变，但存在 EGFR 突变伴新发间质上皮转化（MET）扩增的患者较少。由于发病率低，因此对于治疗方法尚无共识。在这里，我们报告了一例 62 岁的从不吸烟的患者，其存在 EGFR Exon19del 和新发 MET 扩增。对胸部和中腹部进行了影像学检查和计算机断层扫描（CT）成像。进行了肺部穿刺，并使用肺部组织样本进行了病理诊断。对癌细胞进行 CK、P40、P63、ttf-1、NapsinA、alk-d5f3 和 ki-67 的免疫组织化学染色。完成了颅脑磁共振和全身骨成像。还进行了第二代基因测序（下一代测序 [NGS]）和荧光原位杂交检查，以进一步表征癌细胞。进行了影像学检查，结果显示肺部存在占位性病变。CT 结果显示左肺上叶有一个肿块。病理诊断为非小细胞肺癌 T3N2M1a。第二代基因测序（NGS）表明存在 EGFR Exon 19del（p.E746_A750del，突变丰度：13.99%）伴新发 MET 扩增（CHR：q31.2，CN=4.0）。荧光原位杂交检查证实了 MET 扩增。给予吉非替尼联合克唑替尼进行靶向治疗。四周后，CT 结果显示病变明显缩小。对患者进行了随访，情况良好，完全恢复，没有与肿瘤相关的症状。虽然克唑替尼单独用于后续治疗时有效；然而，这个病例和其他病例的结果表明，在出现耐药性的情况下，联合使用这两种药物可能是安全的。
