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Expression Of Rare Gene Mutation In Lung Adenocarcinoma Population And Its Clinical Significance

Posted on:2022-05-07Degree:MasterType:Thesis
Country:ChinaCandidate:W Y PangFull Text:PDF
GTID:2504306335450904Subject:Internal Medicine
Abstract/Summary:PDF Full Text Request
Objective: The aim of this study was to investigate the correlation between the mutation rate,clinical features and prognosis of rare genes in patients with lung adenocarcinoma.Method: Collected in October 2018 to October 2020,the first affiliated hospital,school of medicine in the south of anhui diagnosed and the second generation sequencing method combined detection of EGFR and ALK,KRAS,mutated BRAF,ROS-1,RET,HER2,MET drive gene of the clinical data of 187 patients with lung adenocarcinoma,statistics in addition to the EGFR ALK,KRAS,mutated BRAF,ROS-1,RET,HER2,ME rare genetic mutation rate and analyze it with the relationship between the clinical features and prognosis.Results: 1.Among the 187 patients with lung adenocarcinoma diagnosed in the study,all patients were tested for EGFR,ALK,KRAS,BRAF,ROS-1,RET,HER2 and MET.In 38 patients,rare gene mutations except EGFR were detected,and the mutation rate was 20.32%(38/187).There were 36 patients with single driver gene mutation,and 2patients with coexistence of two gene mutations.There were 149 patients with EGFR mutation and non-mutation,the mutation rate was 79.68%(149/187).Among 38 patients with rare gene mutation,11 patients had ALK gene mutation,and the mutation rate was 5.80%(11/187).Seven patients had KRAS gene mutation,and the mutation rate was 3.74%(7/187).BRAF mutation was found in 2 patients,and the mutation rate was 1.07%(2/187).ROS1 gene fusion was observed in 4 patients,and the mutation rate was 2.14%(4/187).RET gene fusion was found in 6 patients,and the mutation rate was3.21%(6/187).Three patients had HER-2 mutation,and the mutation rate was 1.60%(3/187).Three patients had MET gene variation,and the mutation rate was 1.60%(3/187).1 patient with EGFR/ KRAS mutation,mutation rate was 0.53%(1/187);One patient with MET Exon14 /EGFR mutation had a mutation rate of 0.53%(1/187).No cases of coexistence of mutation or amplification of three or more driver genes were found.2.The mutation of RET gene was more common in female patients(P =0.006)aged less than 60 years(P =0.017),and had no significant correlation with smoking history,family history,TNM stage at first diagnosis,degree of differentiation,lesion diameter,lesion boundary lobulation and burr,cavity sign,pleural depression sign,necrosis sign,lesion location,and lesion characteristics.3.HER2 gene mutation in a family history of cancer(p = 0.004),the imaging has the necrotic sign(p = 0.023),the lesion properties of soft tissue density(p = 0.007),and gender,age,smoking history,TNM stages,differentiation degree to begin with,the diameter of lesions,the focal boundary points leaf and burr,empty sign,pleural sag,lesion location,no significant correlation.4.There was no significant correlation between ALK,KRAS,ROS1,BRAF and Met gene mutations and gender,age,smoking history,family history,TNM stage at first diagnosis,degree of differentiation,lesion diameter,lesion boundary lobulation and burr,cavity sign,pleural depression sign,necrosis sign,lesion location and lesion traits.5.There was no significant correlation between ALK,ROS1,RET and HER2 gene mutations and prognosis(P > 0.05).Conclusion: 1,in the group of 187 cases diagnosed in patients with lung adenocarcinoma,the application of the second generation sequencing method combined detection of EGFR and ALK,KRAS,mutated BRAF,ROS-1,RET,HER2,MET drive gene,38 cases of a rare genetic mutation,ALK,KRAS,mutated BRAF,ROS-1,RET,HER2,MET gene mutation rate were 5.80%,3.74%,1.07%,2.14%,3.21%,1.60%,1.60%.2.The driver gene RET mutation is correlated with age and gender,and is mostly seen in female patients less than 60 years old.3.HER2 gene mutation is correlated with family history,necrosis sign,and foci traits,and most of them occur in patients with family history of cancer,radiographic manifestations of necrosis sign,and foci traits of soft tissue density shadow.4.There was no significant correlation between ALK,KRAS,ROS1,BRAF and Met gene mutation status and gender,age,smoking history,family history,TNM stage at first diagnosis,degree of differentiation,lesion diameter,lesion border lobulation and burr,cavity sign,pleural depression sign,necrosis sign,lesion location and lesion character.5.KRAS and MET mutations can coexist with EGFR mutations.6.There was no significant correlation between ALK,ROS1,HER2 and RET mutation status and prognosis.
Keywords/Search Tags:Adenocarcinoma of lung, Driver Gene, Rare mutations, Clinical features
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