非小细胞肺癌838例EGFR、KRAS基因突变状态及临床意义

Clinical significance of EGFR and KRAS gene mutations in non-small cell lung cancer

目的探讨非小细胞肺癌(NSCKC)中EGFR、KRAS基因突变与患者临床病理特征的相关性。方法采用ARMS法和Sanger测序法检测838例NSCLC样本中EGFR和KRAS基因的突变情况,同时收集患者的临床病理资料,并分析之间的相关性。结果 EGFR、KRAS突变率分别为42.24%、10.98%。EGFR突变以21外显子L858R和19外显子Del突变为主,占所有突变的87.85%;EGFR突变在女性患者中的突变率明显高于男性(P<0.01),在腺癌中的突变率明显高于非腺癌(P<0.01),在不吸烟患者中的突变率明显高于吸烟患者(P<0.01)。KRAS突变以外显子2突变为主,占所有突变的92.39%,其中12密码子突变占86.96%;KRAS突变在男性患者中的突变率明显高于女性(P<0.01),在腺癌中的突变率明显高于非腺癌(P<0.01),在吸烟患者中的突变率明显高于不吸烟者(P<0.01)。EGFR、KRAS突变与患者年龄、有无淋巴结转移无相关性(P>0.05)。结论潍坊地区NSCLC患者中EGFR突变以21外显子L858R和19外显子Del突变为主;KRAS突变以外显子2第12密码子突变为主;EGFR和KRAS基因突变与患者性别、组织学类型及吸烟密切相关。

Objectiver To investigate the association between EGFR,KRAS gene mutation and clinicopathological characteristics in non-small cell lung cancer(NSCLC). Methods Amplification refractory mutation system(ARMS) or Sanger sequencing were used to detect EGFR and KRAS mutations in 838 cases of NSCLC samples. Meanwhile,we collected their clinicopathological information of these 838 patients,and found out the association between the mutations and clinicopathological characteristics. Results The mutation rates of EGFR and KRAS were 42. 24% and 10. 98%,respectively;L858R and 19-Del(87. 85% of all EGFR mutations) were the main mutations. The mutation rate of EGFR was significant higher in female than male(P < 0. 01),higher in adenocarcinomas compared to other subtypes of lung cancer(P<0. 01),and higher in non-smokers compared to smokers(P<0. 01). The mutation of KRAS occurred in exon 2(92. 39%) and codon 12(86. 96%). The mutation rate of KRAS was significant higher in male than female(P<0. 01),higher in adenocarcinomas compared to other subtypes of lung cancer(P < 0. 01),and higher in smokers compared to non-smokers(P<0. 01). However,the mutations of EGFR and KRAS seemed to have no relevance with age and lymph node metastasis(P>0. 05). Conclusion In Weifang NSCLC patients,L858R and 19-Del mutation are main mutations in EGFR,and codon 12 mutation in exon 2 is the main type of mutation in KRAS. Moreover,EGFR and KRAS mutations are significantly related with gender,histologic subtype and smoking.