论文部分内容阅读
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。
Objective To investigate the relationship between the changes of epidermal growth factor receptor (EGFR) and KRAS gene and clinicopathological features in Uygur non-small cell lung cancer (NSCLC) patients. Methods The mutations of exon 18, 19, 20 and 21 of EGFR gene and seven hot body somatic cells of KRAS gene at codon 12 and 13 of 50 NSCLC tissues were detected by using the probe amplification and mutation system (ARMS) To analyze the correlation between the EGFR and KRAS gene mutations and the clinicopathological features of Uygur NSCLC patients. Results The total EGFR detection rate was 12.0% in 50 specimens, of which 4 were exon 19 deletion mutations and 21 were exon 21 L858R mutation mutations. The overall KRAS detection rate was 10% Gly12Ala mutation; no EGFR and KRAS mutations occurred in 1 case. The positive rates of EGFR and KRAS gene mutations in adenocarcinoma, squamous cell carcinoma and large cell carcinoma were 27.8%, 3.5%, 0% and 22.2%, 3.5% and 0%, respectively. The mutation rate of EGFR gene in patients with adenocarcinoma (27.8%) was significantly higher than that in non-adenocarcinoma patients (3.1%), the difference was statistically significant. There was significant difference in KRAS gene mutation between adenocarcinoma and non-adenocarcinoma. The mutation of EGFR and KRAS in Uighur patients had no correlation with age, sex, smoking status, TNM stage and ECOG score. Conclusions Compared with Han nationality, the mutation rate of EGFR in NSCLC patients in Xinjiang Uigur is lower and the mutation rate of KRAS is higher, similar to the mutation characteristics in European and American Caucasians.