非小细胞肺癌EGFR基因突变检测与临床意义  

Detection of epidermal growth factor receptor gene mutation and its clinical significance in non-small cell lung cancers

作　　者：林琳[1] 方平[1] 封国红[1] 糜叶俊[2] 

机构地区：[1]铜陵市人民医院呼吸内科,244000 [2]铜陵市人民医院病理科,244000

出　　处：《国际呼吸杂志》2013年第2期84-87,共4页International Journal of Respiration

基　　金：安徽省卫生厅医学科学研究课题（09C226）

摘　　要：目的探索铜陵地区非小细胞肺癌表皮生长因子受体（EGFR）基因突变与其临床病理特征的关系。方法用蝎形探针扩增阻滞突变系统对非小细胞肺癌患者石蜡包埋组织、冷冻组织进行EGFR基因18～21外显子突变的检测，分析EGFR基因的突变的分布特征及其与临床病理特征的相关性。结果42份非小细胞肺癌标本中24份检测出EGFR基因突变，总检出率57．14％。突变类型主要包括L858R点突变（41．67％）、19-delE746-A450缺失突变（41．67％）、L858R＋19-del（12．50%）、G719X点突变（4．17％）。未检测出第20外显子T790M点突变。女性患者突变率（75．00％）较男性患者突变率（40．91％）高，二者差异有统计学意义（P=0．026）；吸烟〈400年支突变率为70．37％，较吸烟≥400年支突变率（33．33％）高，差异有统计学意义（P=0．02）；肿瘤病理学类型为腺癌突变率为60．61％（20／33），而鳞癌突变率为40．00%（2／5），二者差异无统计学意义（P=0．346）。年龄〈60岁患者突变率为64．00％，较≥60岁患者突变率（47．06％）高，差异无统计学意义（P=0．276）。不同TNM分期之间突变率差异无统计学意义（P=0．9）。结论EGFR基因突变多见于女性、不吸烟或少吸烟非小细胞肺癌患者。Objective To investigate the epidermal growth factor receptor （EGFR） gene mutation and related clinicopathological features in patients with non-small cell lung cancer （NSCLC） in Tongling region. Methods Amplification refractory mutation system was applied to detect EGFR mutations involving exons 18 21 in paraffin imbedding and refrigeration tissue specimens. The relationship between EGFR mutations and clinicopathologieal features was analyzed. Results 24 specimens were detected EGFR gene mutation in 42 NSCLC specimens. The overall EGFR mutation detection rate was 57.14%. The EGFR mutation types included L858R mutation （41.67 % ）, 19-del E746-A450 mutation （41.67 % ）, L858R combined with 19-del mutation （12.50%）, and G719X mutation （4.17%）. T790M mutation in exon 21 was not found in this group of patients. EGFR mutation rate was higher in female patients （75.00%） than that in male patients （40.91%, P =0.026）. EGFR mutation rate was higher in smoking （400 packets · year group （70.37%） than that in smoking ≥400 packets · year group （33.33%, P =0.02）. EGFR gene mutation rate was 60.61% in lung adenocarcinoma, and that was 40.00% in squamous cell carcinoma （ P =0. 346）. There was no significant difference on EGFR mutation rate between age 〈60 years old patients and age ≥60 years old patients （64.00% vs 47.06%, P =0. 276）. There was no significant correlation of EGFR mutation with TNM staging （P = 0.9）. Conclusions There is a higher EGFR mutation rate in female, non-smoker or less smoker.

关 键 词：非小细胞肺癌 表皮生长因子受体 突变 

分 类 号：R734.2[医药卫生—肿瘤]