Liu Xiaona, Cao Yuqing, Li Yuxin, Duan Xiumei
Department of Pathology, The First Hospital of Jilin University, Changchun 30021, China.
Ann Palliat Med. 2020 Mar;9(2):483-487. doi: 10.21037/apm.2020.02.14. Epub 2020 Feb 14.
Human epidermal growth factor receptor 2 (HER2) mutation and amplification are distinct molecular targets in lung cancer, but the specific targeted therapy for their coexistence is undetermined. Personalized targeted therapy is based on mutation type, with different mutations requiring different treatment. A 64-year-old Chinese woman was diagnosed with advanced lung adenocarcinoma. She was determined as having insertion mutations in exon 20 of the HER2 gene (c.2326G > TTGT) by the amplification refractory mutation system (ARMS) and HER2 gene amplification (HER2/CEP17 ratio 2.6) by fluorescence in situ hybridization (FISH). Thereafter, she was treated with afatinib as first-line therapy, to which she responded. After 2 months, the tumor lesion decreased in size. Computed tomography (CT) follow-up showed stable lung lesions, although she later developed multiple brain metastases and subsequently died of brain failure. Lung adenocarcinoma with coexistent HER2 mutation and amplification is relatively uncommon and has no reported cases on targeted therapy. This case was important because it showed effective response to afatinib and provides evidence to help clinicians identify the therapeutic regimen for such patients.
人表皮生长因子受体2（HER2）突变和扩增是肺癌中不同的分子靶点，但针对其共存情况的特异性靶向治疗尚未确定。个性化靶向治疗基于突变类型，不同的突变需要不同的治疗方法。一名64岁的中国女性被诊断为晚期肺腺癌。通过扩增阻滞突变系统（ARMS）确定她的HER2基因第20外显子存在插入突变（c.2326G>TTGT），通过荧光原位杂交（FISH）检测到HER2基因扩增（HER2/CEP17比值为2.6）。此后，她接受阿法替尼作为一线治疗，治疗后有反应。2个月后，肿瘤病灶缩小。计算机断层扫描（CT）随访显示肺部病灶稳定，尽管她后来出现多发脑转移，最终死于脑功能衰竭。HER2突变和扩增共存的肺腺癌相对少见，且尚无关于靶向治疗的报道病例。该病例很重要，因为它显示了对阿法替尼的有效反应，并为临床医生确定此类患者的治疗方案提供了证据。
