新疆维吾尔族与汉族NSCLC患者血清EGFR基因突变及临床特征分析

目的 表皮生长因子受体(epidermal growth factor receptor,EGFR)抑制剂对非小细胞肺癌(non-small cell lung cancer,NSCLC)EGFR基因突变患者有很好的疗效,因此EGFR基因突变状态对治疗方案的选择意义重大.新疆作为多民族聚集地,维吾尔族和汉族在基因、遗传方面存在差异,本研究主要探讨新疆地区汉族及维吾尔族初诊NSCLC患者血清EGFR突变差异及其与临床特征的关系.方法 选取2015-05-01-2016-08-30石河子大学医学院第一附属医院(65例)和喀什地区第一人民医院(51例)初次诊治的非小细胞肺癌患者116例,其中汉族70例,维吾尔族46例.采用二代测序法对患者进行血清EGFR突变检测,统计两组突变差异并分析其临床特征.结果 汉族NSCLC血清EGFR突变率27.1%(19/70),维吾尔族NSCLC血清EGFR突变率8.7%(4/46),差异有统计学意义,χ2=5.942,P=0.015.汉族腺癌突变率36.5%(19/52)高于维吾尔族腺癌突变率13.3%(4/30),差异有统计学意义,χ2=5.076,P=0.024.两者突变均以19、21外显子突变为主,差异无统计学意义,P=0.406.临床特征比较,汉族中女性、腺癌、不吸烟患者突变率较高,差异有统计学意义,P<0.05.维吾尔族中腺癌突变率较高,其它如年龄、临床分期、淋巴结转移情况等在汉族或维吾尔族中差异无统计学意义,P>0.05.Logistic多因素分析显示,种族是EGFR基因突变的独立影响因素,P<0.05,95%CI为0.145~1.599.而性别、年龄、是否吸烟和临床分析对EGFR突变影响不显著.结论 新疆维吾尔族和汉族血清EGFR突变与种族有关,与外显子类型、临床特征无明显关联.

Analysis of Serm EGFR gene mutation and clinical characteristics of NSCLC patients between Uighur nationality and Han nationality in Xinjiang Autonomous Region

OBJECTIVE Epidermal growth factor Receptor Tyrosine Kinase Inhibitor (EGFR-TKI) has a good effect on EGFR mutations in non-small cell lung cancer(NSCLC).Therefore, EGFR gene mutation state is of great significance to the treatment regimen.In Xinjiang, as a multi-ethnic gathering place, there are differences in genetic and genetic aspects of Uygur and Han nationality.The present study was to investigate the difference of serum EGFR mutation and its clinical characteristics in the patients with newly diagnosed NSCLC in the Han and Uygur nationality in Xinjiang area.METHODS The serum levels of EGFR were detected in 70 cases of Han and 46 Uygur NSCLC patients by two generation sequencing method, and the difference of EGFR mutations in the two groups were analyzed and their clinical features were analyzed.RESULTS The mutation rate of EGFR in the NSCLC was 27.1%(19/70), and the mutation rate of EGFR in USC ethnic group was 8.7%(4/46), the difference was statistically significant, χ2=5.942, P=0.015.The mutation rate of adenocarcinoma was 36.5%(19/52) higher than that of Uygur adenocarcinoma 13.3%(4/30), the difference was statistically significant, χ2=5.076,P=0.024.Both mutations were mainly 19,21 exon mutation, the difference was not statistically significant, P=0.406.In the clinical characteristics of the Han nationality, adenocarcinoma, non-smoking patients with high mutation rate, the difference was statistically significant, P<0.05.The mutation rate of adenocarcinoma in Uygur nationality was higher than that in Han nationality or Uygur nationality, and there wasno significant difference between other age groups, clinical stage and lymph node metastasis.Logistic multivariate analysis showed that the race was the independent influencing factor of EGFR gene mutation, P<0.05 (95%CI=0.145-1.599).The effect of sex, age, smoking and clinical analysis on EGFR mutations was not significant.CONCLUSIONS The EGFR mutations in Xinjiang Uygur and Han were related to race.There was no significant correlation between serum EGFR mutation and exon type and clinical characteristics.