摘要:
目的：探讨新疆维吾尔族非小细胞肺癌（NSCLC）患者组织中表皮生长因子受体（EGFR）及 KRAS 基因突变与临床病理特征的关系。方法应用探针扩增阻滞突变系统（ARMS）检测50例 NSCLC 组织中 EGFR 基因第18、19、20和21外显子及 KRAS 基因12、13密码子上7种热点体细胞的突变情况，分析 EGFR 及 KRAS 基因突变与维吾尔族 NSCLC 患者临床病理特征之间的相关性。结果50例标本中，EGFR 总检出率为12．0％，其中4例为19外显子缺失突变，2例为21外显子L858R 点突变；KRAS 总检出率为10％，均位于12密码子 Gly12Ala 突变；无1例发生 EGFR 与 KRAS 同时突变。腺癌、鳞癌、大细胞癌EGFR及KRAS基因突变检出率分别为27．8％、3．5％、0％和22．2％、3．5％、0％。腺癌患者EGFR基因突变率（27．8％）明显高于非腺癌者（3．1％），差异有统计学意义。腺癌与非腺癌患者 KRAS 基因突变比较，差异有统计学意义。维吾尔族患者 EGFR 及 KRAS 基因突变与年龄、性别、吸烟状况、TNM 分期及 ECOG 评分均无关。结论与汉族人群相比，新疆维吾尔族 NSCLC 患者 EGFR 突变率较低，KRAS 突变率较高，类似于欧美高加索人群的突变特点。
Abstract:
Objective To explore the relationship between the mutation of epidermal growth factor receptor (EGFR)and KRAS genes and clinical pathological features in Uyghur pa-tients with non-small cell lung cancer (NSCLC)in Xinjiang.Methods The mutations of EGFR gene exons 18,19,20 and 21 as well as 7 sorts of hot somatic cells in KRAS gene codons 12 and 13 in 50 NSCLC tissues were detected by probe amplification refractory mutation system,and the cor-relation between the mutation of EGFR and KRAS genes and clinical pathological features in Uyghur patients was analyzed.Results Among 50 specimens,the total detection rate of EGFR was 12.0%,in which 4 belonged to deletion mutantion of exon 19,and 2 to L858R point mutation of exon 21.The total detection rate of KRAS was 10%,all of which belonged to Gly12Ala mutation on codon 12.No one simultaneously occurred EGFR and KRAS mutations.The detection rates of EGFR and KRAS genes in adenocarcinoma ,squamous carcinoma and large cell carcinoma were 2 7 .8 % ,3 .5 % ,0 % and2 2 .2 % ,3 .5 % ,0 % respectively .Themutation rateofEGFR in patients with adenocarcinoma (27.8%)was significantly higher than those without adenocarcino-ma (3.1%).There was significant difference of the KRAS gene mutation between patients with /without adenocarcinoma.The mutations of EGFR and KRAS genes in Uyghur patients were not related to the age,gender,smoking,TNM staging and ECOG score.Conclusion Compared with Chinese population,the mutation rate of EGFR in Uyghur patients with NSCLC is lower, but that of KRAS is higher,similar to the mutation of European Caucasian population.
百度学术
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