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摘要:
目的 探讨非小细胞肺癌EGFR基因外显子突变与其临床病理特征的关系。 方法 利用ADx-ARMS®EGFR基因突变检测试剂盒,检测214例未接受过Gefitinib治疗的非小细胞肺癌患者组织中EGFR基因外显子18、19、20和21突变。 结果 非小细胞肺癌组织中EGFR基因总突变率为45.8%(98/214),外显子18、19、20和21的突变率分别为0.93%(2/214)、22.0%(47/214)、2.3%(5/ 214)和20.6%(44/214)。另有2例19和21外显子双重突变。EGFR基因在肺腺癌组织中的总突变率为50.3%(93/185)明显高于肺鳞状细胞癌17.2%(5/29)(P=0.001)。EGFR基因在女性患者中的突变率57.0%(57/100)高于男性36.0%(41/114)(P=0.002),EGFR基因在NSCLC淋巴结转移患者中的突变率(66.7%)显著高于无淋巴结转移患者(39.5%)(P < 0.05),但EGFR基因突变率与肺癌患者的年龄、肿瘤分级和临床分期均无显著性差异(P>0.05)。 结论 中国肺癌尤其是肺腺癌患者存在EGFR基因的较高突变率,EGFR外显子19、21突变结合肺癌的临床病理特征有望成为评估TKI治疗非小细胞肺癌疗效的分子标志。 Abstract:Objective To investigate the mutations of the epidermal growth factor receptor (EGFR) gene and its clinical significance in non-small cell lung cancer (NSCLC). Methods The EGFR gene mutations of exons 18 to 21 in NSCLC were detected by using the ADx-ARMS® detection kit method. Results The total mutation percentage in exons 18 to 21 of the EGFR gene was 45.8% (98/ 214) in NSCLC. These mutations predominantly occur in exons 19 and 21. EGFR gene mutation percentages were found in exons 18 (0.93%, 2/214), 19 (22.0%, 47/214), 20 (2.3%, 5/214), and exon 21 (20.6%, 44/214) in the NSCLC. Two NSCLC cases were identified to have double EGFR gene mutations of exons 19 and 21. EGFR gene mutations were more frequently observed with adenocarcinoma histology (50.3%, 93/185) than with squamous cell carcinoma (17.2%, 5/29) (P=0.001). EGFR gene mutations occur more frequently in NSCLC cases in women than in men (P=0.002). EGFR gene mutations were significantly higher in NSCLC with lymphatic metastasis (66.7%) than in NSCLC without lymphatic metastasis (39.5%) (P < 0.05). However, no evident association was found between EGFR gene mutations and age, as well as tumor grade and clinical stage of NSCLC (P>0.05). Conclusion NSCLC, especially lung adenocarcinomas, has exhibits frequent EGFR gene mutations in China. EGFR gene mutations in exons 19 and 21, combined with the clinical pathological features of lung cancer, can serve as the molecular marker to evaluate the efficacy of EGFR TKI for NSCLC patients. -
表 1 214例非小细胞肺癌患者EGFR基因突变分析
Table 1. Analysis of EGFR gene mutations in 214 cases of NSCLC
表 2 EGFR基因突变与非小细胞肺癌患者临床病理特征的关系
Table 2. Association between the EGFR gene mutations and clinicopathological features of NSCLC
AD:Adenocarcinoma,SCC:Squamous cell carcinoma;For the chi square test,*P=0.002 and **P=0.001 are considered statistically significant 表 3 EGFR基因突变与68例手术切除非小细胞肺癌患者临床病理特征的关系
Table 3. Association between the EGFR gene mutations and clinicopathological features in 68 cases of surgically resected NSCLC
For the Chi square test,*P < 0.05 is considered statistically significant -
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