医学
外显子
突变
肿瘤科
癌症研究
内科学
生殖系
种系突变
桑格测序
外显子组测序
癌症
基因突变
作者
Yang Jiao,Chen Fang,Yuchen Yang,Lin Shao,Yi Huang,Qinying Sun,Yuchao Dong
摘要
MET exon 14 skipping variants have been identified as a novel type of oncogenic driver mutations in non-small-cell lung cancer (NSCLC), while the germline MET mutation, especially germline MET exon 14 skipping mutation rarely occurred in NSCLC. Herein, we present the first case of a 33-year-old NSCLC patient with a germline MET exon 14 skipping mutation, who also harbored a somatic EGFR exon 20 insertion. The patient was initially diagnosed with a stage IIB adenosquamous carcinoma. He underwent a thoracoscopic radical resection followed by four cycles of adjuvant chemotherapy but relapsed 2 months after completing the chemotherapy. Afatinib was then prescribed but disease progressed immediately. Subsequently, he received anlotinib but did not respond and died a month later with an overall survival of 9 months. Our case may provide an evidence for the pathogenicity of germline MET exon 14 skipping mutation in NSCLC and suggest it as an adverse prognostic factor.
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