文章摘要

TKI获得性耐药向鳞状细胞癌转化合并EGFR T790M突变1例及文献复习

作者: 1丁鹏, 1常志伟, 1闫洁, 1秦艳茹
1 郑州大学第一附属医院肿瘤科,郑州 450000
通讯: 秦艳茹 Email: 15093374361@163.com
DOI: 10.3978/j.issn.2095-6959.2019.12.042

摘要

郑州大学第一附属医院收治了1例组织学向鳞状细胞癌转化合并表皮生长因子受体T790M突变(Thr790Met mutation of the epidermal growth factor receptor,EGFR T790M)、间质-上皮细胞转化因子(mesenchymal-epithelial transition factor,MET)突变的肺腺癌病例。患者,女,56岁,无吸烟史,左下肺叶腺癌根治术后6年,自觉胸壁肿块增大3 d。正电子发射计算机断层显像(positron emission tomography-computed tomography,PET/CT)见胸骨左侧旁软组织,左侧第2,4,5后肋及左侧第7侧肋、右侧第4及5后肋、胸骨转移;左肺上叶舌段斑片影代谢较活跃。第2次胸壁活检证实鳞状细胞癌浸润或转移,免疫组织化学结果示:TTF-1(−),CK7(+),NapsinA(−),Ki-67(约30%+),CK5/6(+),P40(+)。基因检测提示EGFR基因19外显子缺失突变,可能对酪氨酸激酶抑制剂(tyrosine kinase inhibitor,TKI)类药物敏感;EGFR基因20外显子T790M错义突变,可能对第1代TKI类药物耐药,对第3代TKI类药物敏感。化疗联合奥希替尼治疗具有较好的临床疗效。TKI获得性耐药向鳞状细胞癌转化的具体机制尚不完全清楚,需要在早期行基因检测,进展后多次完善病理及基因检测,并且尽早行TKI辅助治疗。
关键词: 酪氨酸激酶抑制剂获得性耐药;组织学转化;表皮生长因子受体T790M突变;奥希替尼

EGFR mutation-positive lung adenocarcinoma that transformed to T790M-positive squamous cell carcinoma: A case report and literature review

Authors: 1DING Peng, 1CHANG Zhiwei, 1YAN Jie, 1QIN Yanru
1 Department of Oncology, First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China

CorrespondingAuthor: QIN Yanru Email: 15093374361@163.com

DOI: 10.3978/j.issn.2095-6959.2019.12.042

Abstract

We report a case of epidermal growth factor receptor (EGFR) mutation-positive lung adenocarcinoma that transformed to Thr790Met (T790M) and mesenchymal-epithelial transition factor (MET) mutation-positive squamous cell carcinoma. A 56-year-old woman, a never-smoker, was admitted to the hospital for radical surgery of left lower lobe after 6 years, and a chest wall mass increase for 3 days. Positron emission tomography-computed tomography (PET/CT) showed soft tissue on the left side of the sternum, left 2nd, 4th, and 5th posterior ribs and left 7th rib, right 4th and 5th posterior ribs, sternal metastases; the metabolism of the tongue segment of upper left lobe are less active in the plaque. Second chest wall biopsy confirmed squamous cell carcinoma invasion or metastasis, and the Immunohistochemistry showed TTF-1 (−), CK7 (+), NapsinA (−), Ki-67 (about 30%+), CK5/6 (+), P40 (+). Genetic testing suggested that the EGFR gene 19 exon deletion mutation may be sensitive to the tyrosine kinase inhibitor (TKI); EGFR gene 20 exon T790M missense mutation may be resistant to the first-generation TKI, and sensitive to the third-generation TKI. Chemotherapy combined with osimertinib had good clinical efficacy for the treatment of T790M-positive squamous cell carcinoma. The Specific mechanism of EGFR mutation-positive lung cancer transformed into squamous cell carcinoma after treatment with the TKI has been still not completely clear, and it is necessary to accept early genetic testing, improve pathology and genetic testing several times after progress and begin to adopt the TKI adjuvant therapy as soon as possible.
Keywords: acquired drug-resistance of tyrosine kinase inhibitor; histological transformation; Thr790Met missense mutation of the epidermal growth factor receptor; osimertinib