| Objective:The next-generation sequencing technology(NGS)was used to detect EGFR,ALK,KRAS,BRAF,HER2,PIK3CA,NRAS,MET,ROS1 and RET genes mutations in non-small cell lung cancer patients.Analyze the relationship between various gene mutations and clinical pathological characteristics,and explore the relationship between each mutant gene.The consistency between NGS technology and other gene mutation detection technology in clinical pathology was analyzed,and the significance of NGS technology in clinical diagnosis and treatment was discussed.Methods:1.The clinical and pathological data of 209 patients with advanced stage NSCLC diagnosed in the pathology department of Shanxi Cancer Hospital from March 2016 to March 2018 were collected.2.The Illumina MiniSeq sequencing platform was used to detect the changes of 10driver genes of non-small cell lung cancer,analyze their relationship with clinicopathological characteristics,and analyze the relationship between each mutant gene;the EGFR gene,ALK fusion gene,ROS1 gene test results and clinical The results of the standard detection methods of molecular pathology were analyzed for consistency.3.SPSS 25.0 software was used for statistical analysis.?~2 test was used for comparison between variable groups.Fisher's exact probability method was used for the theoretical frequency<5.The correlation analysis between mutations of each gene used Spearman rank correlation analysis.Between different detection methods Kappa test was used for the consistency analysis.Results:1.Frequency of various gene mutationsThe combined detection of 10 gene mutations showed that the overall mutation positive rate of the combined detection of 10 driving gene mutations in 209 cases of NSCLC was 69.9%(146/209),namely EGFR(37.6%,80/209),ALK(13.1%,28/209),KRAS(11.3%,24/209),ROS1(3.3%,7/209),HER2(1.9%,4/209),PIK3CA(1.4%,3/209),BRAF(0.9%,2/209),RET(0.5%,1/209),MET(0.0%,0/209),NRAS(0.0%,0/209).The detection revealed one case of double gene coexisting mutations EGFR/ROS1,EGFR/PIK3CA,ALK/BRAF.2.Correlation between gene mutations and clinical featuresEGFR mutations are correlated with gender,smoking,histological type,and TNM stage(P<0.05),but not with patient age and tumor location(P>0.05).ALK fusion mutations are related to gender and smoking(P<0.05),but not related to age,TNM stage,histological type,and tumor site(P>0.05).KRAS gene mutation is related to the patient's gender and age(P<0.05),but not related to smoking,TNM stage,histological type,and tumor site(P>0.05).ROS1 fusion mutations were correlated with TNM staging(P<0.05),and were not correlated with gender,age,smoking,histological type,and tumor site(P>0.05).There was no correlation between HER2,PIK3CA,BRAF,RET,MET,NRAS and gender,age,smoking,TNM stage,histological type,tumor site(P>0.05).3.Correlation between gene mutationsEGFR gene mutation is negatively correlated with ALK fusion mutation(P=0.000,rs=-0.297),and negatively correlated with KRAS gene mutation(P=0.000,rs=-0.278);and ROS1,HER2,PIK3CA,BRAF,RET genes There was no correlation between mutations(P>0.05).ALK fusion mutations were negatively correlated with KRAS gene mutations(P=0.045,rs=-0.139),and had no correlation with ROS1,HER2,PIK3CA,BRAF,RET gene mutations(P>0.05).There was no correlation between ROS1,HER2,PIK3CA,BRAF,RET gene mutations and other gene mutations(P>0.05).4.Consistency of results of different detection technologiesThe detection results of this next-generation sequencing EGFR mutation,ALK fusion mutation and ROS1 fusion mutation are highly consistent with the results of clinical standard detection methods.Conclusion:1.In non-small cell lung cancer,there are multiple driver gene coexistence mutations and multi-site coexistence mutations with a low positive rate,and mutations of several driver genes are commonly associated.2.The next-generation sequencing technology has high accuracy in the joint detection of multiple driver gene mutations in non-small cell lung cancer. |
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