| 原发性肺鳞癌中EGFR和ALK基因突变的临床研究 |
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| 引用本文： | 钟炜祥,韦晰凤.原发性肺鳞癌中EGFR和ALK基因突变的临床研究[J].现代肿瘤医学,2022,0(21):3919-3923. |
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| 作者姓名： | 钟炜祥 韦晰凤 |
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| 作者单位： | 1.赣南医学院第一附属医院胸外科，江西 赣州 341000;2.赣州市妇幼保健院，江西 赣州 341000 |
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| 基金项目： | 江西省赣州市卫生健康委员会指导性科研计划项目（编号:2020-2-80）；赣南医学院第一附属医院院级科技计划项目（编号:YJYB202011） |
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| 摘 要： | 目的:探讨赣南地区原发性肺鳞癌患者EGFR和ALK基因突变的特点,科学指导此类患者优选靶向用药。方法:入组73例原发性肺鳞癌病例,采用ARMS-PNA技术检测EGFR基因第18、19、20、21外显子突变,应用不平衡法检测其中60例病例的ALK融合基因,回顾性分析EGFR和ALK基因突变患者的临床病理特征。结果:EGFR基因突变8例,阳性率为10.96%(8/73),4例为L858R突变,3例为19del突变,1例为G719X突变。女性患者突变率(66.67%,2/3)明显高于男性患者(8.57%,6/70)(P=0.030),EGFR基因突变在高龄(≥60岁)、进展期(N_(1-3)、Ⅲ+Ⅳ期)患者中相对较高,但差异无统计学意义(P>0.05)。EGFR基因突变与吸烟史、T分期以及肿瘤分布位置均无相关性(P>0.05);ALK融合基因表达2例,阳性率3.33%(2/60),与患者性别、年龄、吸烟史、TNM分期及肿瘤分布类型等各临床病理特征均无相关性(P>0.05);未发现EGFR和ALK基因共存突变病例。结论:赣南地区原发性肺鳞癌患者EGFR和ALK基因突变率相对不高,EGFR基因突变以L858R和19del突变为主,且好发于女性患者,可能是患者病情进展的预测因子之一。
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| 关 键 词： | 肺鳞状细胞癌 EGFR ALK 基因突变 |
Clinical study of EGFR and ALK gene mutations in primary pulmonary squamous cell carcinoma |
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| ZHONG Weixiang,WEI Xifeng.Clinical study of EGFR and ALK gene mutations in primary pulmonary squamous cell carcinoma[J].Journal of Modern Oncology,2022,0(21):3919-3923. |
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| Authors: | ZHONG Weixiang WEI Xifeng |
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| Affiliation: | 1.Department of Thoracic Surgery,the First Affiliated Hospital of Gannan Medical University,Jiangxi Ganzhou 341000,China;2.Ganzhou Maternity and Child Health Hospital,Jiangxi Ganzhou 341000,China. |
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| Abstract: | Objective:To explore the characteristics of EGFR and ALK gene mutations in patients with primary pulmonary squamous cell carcinoma in Gannan region,and scientifically guide such patients to choose targeted drugs.Methods:73 cases of primary pulmonary squamous cell carcinoma were enrolled.The ARMS-PNA technology was used to detect mutations in exons 18,19,20,and 21 of EGFR gene.The imbalance method was used to detected ALK fusion gene of 60 cases.The clinicopathological characteristics of patients with mutations of EGFR and ALK were retrospectively analyzed.Results:There were 8 cases of EGFR mutation.The positive rate was 10.96%(8/73).4 cases were L858R mutation,3 cases were 19del mutation,and 1 case was G719X mutation.The mutation rate of female patients (66.67%,2/3) was significantly higher than that of male patients (8.57%,6/70) (P=0.030).EGFR mutation was relatively high in elderly (≥60 years old),advanced (N1-3,III+IV) patients,but the difference was not statistically significant (P＞0.05).There was no correlation between EGFR mutation and smoking history,T stage and tumor distribution location (P＞0.05).2 cases of ALK fusion gene were expressed,and the positive rate was 3.33%(2/60).There was no correlation between the expression of ALK and the clinicopathological characteristics,such as gender,age,smoking history,TNM stage,tumor distribution location and so on (P＞0.05).No case of coexisting mutations of EGFR and ALK was found.Conclusion:In Gannan region,the positive rate of EGFR and ALK gene mutations in patients with primary pulmonary squamous cell carcinoma is relatively low.L858R mutation and 19del mutation are the main EGFR mutation type.EGFR mutation,which may be one of the predictors of disease progression,occurs more frequently in female patients. |
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| Keywords: | pulmonary squamous cell carcinoma epidermal growth factor receptor anaplastic lymphoma kinase gene mutation |
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