The Analysis On The Relationship Between VHL Gene Mutation And Clinical Features Of Sporadic Renal Clear Cell Carcinoma

Objective:In this paper,we would analyze the occurrence characteristics of gene mutation by testing the gene mutation in the tumor tissue samples of sporadic renal clear cell carcinoma,and study the relationship between VHL gene mutation status and clinical indicators such as patient gender,age,tumor size clinical stage and pathological grade,analyze the effects of VHL gene mutations in targeted therapy,to provide some help and guidance for the diagnosis and treatment of renal clear cell carcinoma.Methods:Retrospective analysis of 92 patients who were admitted to our hospital and underwent surgery from July 2016 to December 2018,the postoperative pathology was confirmed with sporadic renal clear cell carcinoma.All patients with renal tumor tissue specimens were genetically tested by whole exome sequencing,and collecte their clinical data,including age,gender,clinical symptoms,tumor size,tumor blood supply,clinical stage,pathological grade,etc.and the gene mutation,the number,the location and the abundance of gene mutations in the statistical test results,to analyze the occurrence characteristics of gene mutation in sporadic renal clear cell carcinoma.All patients were grouped according to the number of gene mutations,the presence or absence of mutations,the location of the mutation and the abundance of VHL gene mutations,then we would use statistical methods to analyze the correlation between VHL gene mutation status and clinical indicators such as age,gender,tumor size,clinical symptoms,clinical stage and pathological grade of patients with renal clear cell carcinoma.In combination with the efficacy of targeted therapy in partial patients with metastatic renal clear cell carcinoma,the effect of VHL gene mutation was indirectly analyzed.Results:Among 92 tumor tissue specimens,84(91.3%)patients had genetic variation,of which 50 were VHL gene mutations with a mutation rate of 54.3%.There were only 17 single-gene mutations,and 67 in two or more mutations,with an incidence of 79.8%(67/84).In the VHL gene mutation group,there were 21 exon 1 mutation,11 exon 2 mutation,16 exon 3 mutation,2 intron shear mutations,and including 10 low abundance mutation,25 medium abundance mutation,15 high abundance mutation.Statistical analysis found that patients with VHL gene mutations had more abundant tumor vessels(P < 0.05),the number of gene mutations,VHL gene mutations and mutation location were not associated with patient age,gender,tumor size,clinical symptoms,clinical stage,pathological grade,etc(P > 0.05).VHL gene mutation abundance and tumor size,tumor blood supply,clinical stage may be related(P < 0.05),but not related to pathological grade(P > 0.05).Six patients with metastatic ccRCC received targeted therapy after surgery.Four of them had VHL gene mutation and two had no VHL gene mutation,the survival prognosis of all patients was significantly prolonged.Conclusion:1.Gene mutation is an important mechanism for the development of ccRCC.VHL gene mutation is the most common,and most patients have multiple gene mutation at the same time,but the number of gene mutation may be unrelated to the clinical characteristics,tumor stage and pathological grade of patients.2.VHL gene mutation may be an early event in the progression of ccRCC patients,and can promote tumor angiogenesis,but is independent of clinical features such as age,gender,tumor size,clinical stage,pathological grade,and survival prognosis.The abundance of VHL gene may be related to tumor size,tumor blood supply and clinical stage,but not related to pathological grade.3.Targeted therapy can significantly improve the survival prognosis of patients with metastatic ccRCC,patients with VHL gene mutation may can have a better prognosis in targeted therapy.