| Purpose:First of all,to analyze the correlation between the mutated target genes and TMB in Cf DNA and the short-term efficacy of radical concurrent chemotherapy and radiotherapy(CCRT)in clinical locally advanced esophageal squamous cell carcinoma(ESCC).Secondly,to research the genes and molecular markers related to the sensitivity of radical CCRT in clinical locally advanced ESCC.Methods:The peripheral blood of 31 patients with clinical locally advanced ESCC receiving radical CCRT was collected and their plasma Cf DNA was withdrawed before treatment,target gene capture sequencing technology based on NovaseQ6000 highthroughput sequencing platform was used to detect the change of target genes and tumor mutation burden.According to the short-term efficacy of chemoradiotherapy,the patients were divided into chemoradiotherapy-sensitive group(CR+PR)and chemoradiotherapyresistant group(SD+PD),Bioinformatics and clinical data were used to analyze the differences of gene mutation and TMB between the two groups.Results:In the sequencing data of 31 groups of patients,the tumor-related genes with mutation frequency above 10%were TP53,Notchl,BRAF,FGFR4,CDKN2A,ATRX and Axin2,the above 7 genes were distributed in the chemoradiotherapy-sensitive group and the chemoradiotherapy-resistant group with no difference.High-frequency mutant genes are associated with 7 signaling pathways,mainly involving in the RTK-Ras signaling pathway.The TMB value of chemoradiotherapy-sensitive group was higher than that of chemoradiotherapy-resistant group(p=0.04),however,the mutation rate of GXYLT1 and KRT18 genes in the chemoradiotherapy-resistant group was higher than that in the chemoradiotherapy-sensitive group(p<0.001).Conclusion:TP53,Notchl and CDKN2A may be the driving genes for the development and progression of esophageal squamous cell carcinoma.KRT18;GXYLT1 and TMB were closely related to the chemoradiotherapy-sensitive of patients with clinical locally advanced ESCC. |
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