存在驱动基因突变肺鳞癌患者的临床病理特征及预后分析

发布时间：2018-07-25 15:35

【摘要】：背景与目的表皮生长因子受体(epidermal growth factor receptor,EGFR)、间变淋巴瘤激酶(anaplastic lymphoma kinase,ALK)以及KRAS基因是非小细胞肺癌(non-small cell lung cancer,NSCLC)常见的驱动基因。多项临床研究已证实,EGFR敏感突变及棘皮动物微管相关类蛋白4-间变淋巴瘤激酶(echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase,EML4-ALK)基因重排的晚期肺腺癌患者,一线治疗选择靶向药物优于化疗,其在总缓解率(overall response rate,ORR)、无进展生存期(progression-free survival,PFS)及生活质量方面均有明显优势。然而,在肺鳞癌患者中,目前尚无明确的基因检测位点及靶向药物来指导临床治疗。本研究旨在分析肺鳞癌患者EGFR、ALK以及KRAS基因的突变状态,以及相关的临床病理特征,从而为今后的治疗提供相应指导。方法回顾性分析已行相关驱动基因检测的肺鳞癌患者90例,利用突变扩增阻滞系统(amplification refractory mutation system,ARMS)的方法进行EGFR及KRAS基因检测,荧光原位杂交(fluorescence in situ hybridization,FISH)技术进行ALK基因融合检测。结果 90例患者均进行了EGFR及KRAS基因检测,8例患者为EGFR基因突变(8.8%);2例患者为KRAS基因突变(2.2%);18例患者通过FISH方法进行了ALK基因融合检测,1例患者存在EML4-ALK基因融合(5.6%)。女性患者的EGFR基因突变率高于男性(P=0.022)。EGFR突变及野生型患者在病理分期(P=0.042)及分化程度(P=0.003)上均有差异。以胸膜为首发转移部位的EGFR突变患者比率高于EGFR野生型患者(P=0.013)。靶向治疗与化疗对EGFR突变患者的PFS无影响(P=0.607)。结论 ALK基因融合患者应用靶向治疗后可获得理想疗效。
[Abstract]:Background & objective Epidermal growth factor receptor (epidermal growth factor receptor), anaplastic lymphoma kinase (anaplastic lymphoma kinase) and KRAS gene are common driving genes in non-small cell lung cancer (non-small cell lung cancer-NSCLC). A number of clinical studies have confirmed that in patients with advanced lung adenocarcinoma with EGFR-sensitive mutation and echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase-associated protein-4-ALK gene rearrangement, first-line therapy targeting drugs is superior to chemotherapy. It has obvious advantages in the total remission rate (overall response rrr), progression-free survival time (PFS) and quality of life (QOL). However, in lung squamous cell carcinoma patients, there are no specific gene detection sites and targeted drugs to guide clinical treatment. The aim of this study was to analyze the mutation status of KRAS gene and EGFR ALK gene in patients with squamous cell carcinoma of lung, and to provide guidance for future treatment. Methods 90 patients with lung squamous cell carcinoma were analyzed retrospectively. The EGFR and KRAS genes were detected by mutation amplification block system (amplification refractory mutation system ARMS), and the ALK gene fusion was detected by fluorescence in situ hybridization (fluorescence in situ) hybridisation fish. Results EGFR and KRAS gene were detected in all 90 patients. EGFR gene mutation was found in 8 patients (8.8%) and KRAS gene mutation in 2 patients (2.2%). ALK gene fusion was performed in 18 patients by FISH method. EML4-ALK gene fusion was found in 1 patient (5.6%). The mutation rate of EGFR gene in female patients was higher than that in males (P0. 022). EGFR mutations and wild type patients were different in pathological stage (P0. 042) and differentiation (P0. 003). The rate of EGFR mutation with pleura as the first metastatic site was higher than that with EGFR wild type (P0. 013). Targeted therapy and chemotherapy had no effect on PFS in patients with EGFR mutation (P0. 607). Conclusion ALK gene fusion patients can obtain ideal therapeutic effect after targeted therapy.
【作者单位】：国家癌症中心/中国医学科学院北京协和医学院肿瘤医院;
【分类号】：R734.2

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