CAJ | 학술논문

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。
목적：탐토비소세포폐암EGFR기인외현자돌변여기림상병리특정적관계。방법：이용ADx-ARMS?EGFR기인돌변검측시제합，검측214례미접수과Gefitinib치료적비소세포폐암환자조직중EGFR기인외현자18、19、20화21돌변。결과：비소세포폐암조직중EGFR기인총돌변솔위45.8%（98/214），외현자18、19、20화21적돌변솔분별위0.93%（2/214）、22.0%（47/214）、2.3%（5/214）화20.6%（44/214）。령유2례19화21외현자쌍중돌변。EGFR기인재폐선암조직중적총돌변솔위50.3%（93/185）명현고우폐린상세포암17.2%（5/29）（P=0.001）。EGFR기인재녀성환자중적돌변솔57.0%（57/100）고우남성36.0%（41/114）（P=0.002）， EGFR기인재NSCLC림파결전이환자중적돌변솔（66.7%）현저고우무림파결전이환자（39.5%）（P<0.05），단EGFR기인돌변솔여폐암환자적년령、종류분급화림상분기균무현저성차이（P>0.05）。결론：중국폐암우기시폐선암환자존재EGFR기인적교고돌변솔，EGFR외현자19、21돌변결합폐암적림상병리특정유망성위평고TKI치료비소세포폐암료효적분자표지。
Objective:To investigate the mutations of the epidermal growth factor receptor (EGFR) gene and its clinical signifi-cance in non-small cell lung cancer (NSCLC). Methods:The EGFR gene mutations of exons 18 to 21 in NSCLC were detected by us-ing 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 adenocar-cinomas, 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.