ARMS法在肺腺癌EGFR基因突变检测中的应用及意义

Application and significance of ARMS method in the detection of EGFR gene mutation in lung adenocarcinoma

目的应用扩增阻滞突变系统(amplification refractory mutation system,ARMS)法检测肺腺癌不同标本类型表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变及其临床意义。方法收集厦门大学附属东南医院2019年1-12月肺腺癌标本232例,包括手术切除标本16例,肺活检标本126例,恶性胸腔积液细胞块标本35例,转移病灶标本55例,采用ARMS法检测EGFR基因突变,并分析EGFR基因突变在肺腺癌的临床意义。结果肺腺癌标本EGFR基因突变率44.83%(104/232)。年龄≥60岁者突变率为44.06%(63/143),年龄<60岁者突变率为46.07%(41/89),差异无统计学意义(P>0.05)。手术切除标本突变率为43.75%(7/16),肺活检标本突变率为38.89%(49/126),转移病灶标本突变率为47.27%(26/55),恶性胸腔积液细胞块标本突变率为62.86%(22/35),不同标本类型间突变率差异无统计学意义(P>0.05)。女性患者突变率(58.24%,53/91)高于男性(36.17%,51/141),差异有统计学意义(P<0.05)。结论ARMS法可用于肺腺癌不同标本类型EGFR基因突变检测;EGFR基因突变可能与患者性别有差异,与年龄及标本类型无差异。

Objective To investigate the gene mutation and clinical significance of epidermal growth factor receptor(EGFR)in different specimen types of lung adenocarcinoma patients using amplification refractory mutation system(ARMS).Methods A total of 232 lung adenocarcinoma specimens from the Affiliated Southeast Hospital of Xiamen University from January 2019 to December 2019 were collected for EGFR gene testing,including 16 cases of resected specimens,126 cases of lung biopsy specimens,35 cases of malignant pleural effusion cell block specimens,and 55 cases of metastatic lesions.The above specimens were tested for EGFR gene mutations using ARMS method,and the clinical significance of EGFR gene mutations in patients with lung adenocarcinoma was analyzed.Results The rate of EGFR gene mutation in lung adenocarcinoma specimens was 44.83%(104/232).The mutation rate was 44.06%(63/143)for those older than or equal to 60 years,and 46.07%(41/89)for those younger than 60 years,and there was no statistical difference(P>0.05).The rate of EGFR gene mutation was 43.75%(7/16)for resected specimen,38.89%(49/126)for lung biopsy specimen,47.27%(26/55)for metastatic lesion specimen,and 62.86%(22/35)for cell block specimen of malignant pleural effusion,and there was no statistical significance between different specimen types(P>0.05).The EGFR gene mutation rate was 36.17%(51/141)in male patients and 58.24%(53/91)in female patients(P<0.05).Conclusion ARMS method can be used to detect EGFR gene mutation in different specimen types of lung adenocarcinoma.EGFR gene mutations are related to gender,but not to age and specimen type.