肺腺癌伴EGFRKIF5B-MET共突1例并文献复习

Lung adenocarcinoma with EGFR and KIF5B-MET co-mutations: A case report

  • 摘要:
    背景 随着基因检测技术的迅猛发展,通过检测肺癌患者的分子改变以指导临床靶向治疗已成为主流趋势。
    目的 本文报告1例患者男,51岁,解放军总医院第一医学中心病理科分子病理诊断实验室检测诊断为肺腺癌,临床TNM分期T1bN0M0,二代测序检测EGFR(L858R)KIF5B-MET罕见基因融合双突变。
    方法 患者行视频辅助胸腔镜手术(VATS)右肺上叶切除 + 纵隔淋巴结清扫术后未进行靶向治疗及放化疗。
    结果 患者随访至今预后良好。
    结论 通过分析患者临床资料、诊疗过程和疾病转归,探讨了非小细胞肺癌(Non-small cell lung cancer,NSCLC)患者新突变形式和相关治疗靶点。早期肺癌根治术治疗效果良好,二代测序对于发现患者罕见突变和寻找治疗靶点有重要意义。

     

    Abstract:
    Background With the development of genetic testing technology, it has become a mainstream to detect molecular alterations in lung cancer patients to guide clinical targeted therapy.
    Objective To report a case of male, 51 years old, diagnosed as lung adenocarcinoma in the molecular pathology diagnostic laboratory of Department of Pathology of the First Medical Center of Chinese PLA General Hospital, with clinical TNM stage T1bN0M0, and double mutation of rare gene fusion of EGFR (L858R) and KIF5B-MET by second-generation sequencing.
    Methods The patient underwent video-assisted thoracoscopic surgery (VATS), which involved resection of the upper lobe of the right lung and clearance of the mediastinal lymph nodes.
    Results After surgery, no targeted therapy or radiotherapy was performed, and the prognosis was good since the follow-up.
    Conclusion By analyzing the clinical data, diagnosis and treatment process and disease regression of the patient, the new mutation forms and related therapeutic targets in non-small cell lung cancer (NSCLC) patients are investigated, suggesting that early radical lung cancer treatment is effective, and second-generation sequencing is important for identifying rare mutations and therapeutic targets.

     

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