基于循环DNA检测的新疆维、汉族非小细胞肺癌的EGFR基因突变研究

发布时间：2018-03-15 08:12

本文选题：维吾尔族　切入点：汉族　出处：《石河子大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:通过检测新疆地区初诊维吾尔族与汉族非小细胞肺腺癌外周血游离DNA中EGFR基因的表达,探讨两民族间血清EGFR突变差异及其临床特征特点。方法:收集116例就诊于2015-05-01至2016-08-30石河子大学医学院第一附属医院及喀什地区第一人民医院,经病理证实为非小细胞肺癌的患者,取静脉血6ml按QIAamp Blood Mini Kit试剂盒提取血清游离DNA后。采用PCR及直接测序法检测NSCLC患者外周血游离DNA中EGFR基因18、19、20、21号外显子表达。统计学处理:采用SPSS 22.0统计软件分析结果,患者一般资料、EGFR突变、EGFR及临床特征之间的关系采用χ2检验,必要时用Fisher确切概率法,EGFR和临床特征的多因素分析用logistic回归分析,P0.05为差异有统计学意义。结果:1.入组116例非小细胞肺癌血清标本,包括70例汉族,46例维族,检测出EGFR突变例数共23例,总突变率为19.8%。其中汉族突变例数19例,突变率27.1%,维吾尔族突变例数4例,突变率8.7%。可见非小细胞肺癌患者中维吾尔族突变率低于汉族突变率,有统计学差异(P=0.015)。2.所有检测突变患者均为腺癌患者,其中汉族腺癌突变率36.5%(19/52),维吾尔族腺癌突变率13.3%(4/30),且有统计学差异(P=0.024)。3.检测EGFR突变以19、21外显子突变为主。维吾尔族患者19号外显子所占比率75.0%(3/4)明显高于21号外显子所占比率25.0%(1/4),而汉族患者19号外显子所占比率57.9%(11/19)略高于21号外显子所占比率42.1%(8/19)。19、21突变率相比较,汉族与维族无统计学差异(P=0.406)。4.在汉族患者中,女性,不吸烟的患者EGFR基因突变率较高,有统计学差异(P0.05),而年龄、临床分期和淋巴结转移与EGFR突变无统计学差异(P0.05)。但在维族患者中,EGFR突变与性别、年龄、是否吸烟、临床分期和淋巴结转移无明显关联(P0.05)。5.Logistic多因素分析显示,民族是EGFR基因突变的独立影响因素,P0.05(95%CI区间:1.372-15.078)。而性别、年龄、是否吸烟和临床分析对EGFR突变影响不明显(P0.05)。结论:1.新疆汉族与维吾尔族非小细胞肺癌患者血清EGFR突变率有差异。2.新疆汉族非小细胞肺癌EGFR突变常见于女性、腺癌、不吸烟患者。3.新疆维吾尔族非小细胞肺癌EGFR突变常见于腺癌,且突变与性别、是否吸烟等临床特征无明显关联。4.民族是血清EGFR突变的独立影响因素。
[Abstract]:Objective: to detect the expression of EGFR gene in peripheral blood free DNA of newly diagnosed Uygur and Han non-small cell lung adenocarcinoma in Xinjiang. To explore the difference of serum EGFR mutation and its clinical characteristics between the two peoples. Methods: 116 patients with non-small cell lung cancer (NSCLC) were collected from the first affiliated Hospital of Shihezi University Medical College and the first people's Hospital of Kashi region from January 2015-01 to 2016-08-30. Serum free DNA was extracted from venous blood 6ml according to QIAamp Blood Mini Kit kit. PCR and direct sequencing were used to detect the expression of EGFR gene in peripheral blood of NSCLC patients. The relationship between EGFR mutation and clinical features was analyzed by 蠂 2 test. When necessary, the multivariate analysis of Fisher and clinical features by Fisher exact probability method and logistic regression analysis were statistically significant. Results: 1. Serum samples of 116 non-small cell lung cancer (NSCLC) patients, including 70 Han nationality (46 Uygur), were included in the study. 23 cases of EGFR mutation were detected, the total mutation rate was 19.80.There were 19 cases of Han nationality mutation, 27.1 cases of mutation rate, 4 cases of Uygur mutation, and 8.7% of mutation rate. It can be seen that the mutation rate of Uygur nationality is lower than that of Han nationality in non-small cell lung cancer patients. There was a statistical difference between the two groups. All the patients with mutation were adenocarcinoma. The mutation rate of adenocarcinoma of Han nationality was 36.5% / 52%, and the mutation rate of Uygur adenocarcinoma was 13.3%, and there was statistical difference between them. The detection of EGFR mutation was mainly in exon 1921. The percentage of exon 19 in Uygur patients was 75.0% higher than that in exon 21. The ratio of 25.0% to 1 / 4%, and the percentage of Han patients with exon 19 was 57.9% or 11 / 19), slightly higher than that of exon 21 (42.1% / 1921%). There was no statistical difference between Han nationality and Uygur nationality. The mutation rate of EGFR gene in female patients was higher than that in non-smoking patients (P 0.05). There was no significant difference between clinical stage and lymph node metastasis and EGFR mutation (P 0.05), but there was no significant correlation between EGFR mutation and sex, age, smoking, clinical stage and lymph node metastasis in Uygur nationality. Logistic multivariate analysis showed that there was no significant correlation between clinical stage and lymph node metastasis. Nationality is the independent factor influencing the mutation of EGFR gene P0.0595 CI: 1.372-15.0780.Sex, age, Smoking and clinical analysis had no significant effect on EGFR mutation. Conclusion 1.There is a significant difference in serum EGFR mutation rate between Xinjiang Han nationality and Uygur non-small cell lung cancer patients. 2.The EGFR mutation of Xinjiang Han nationality non-small cell lung cancer is more common than that of female and adenocarcinoma. Xinjiang Uygur non-small cell lung cancer EGFR mutation is common in adenocarcinoma, and mutation and sex, smoking and other clinical characteristics are not significantly related. 4. Nationality is an independent factor of serum EGFR mutation.
【学位授予单位】：石河子大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R734.2

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