A Study Of Genetic Mutation Of Esophageal Carcinomas Based On The Technology Of Next-generation Sequencing

Objective:To explore the genetic mutations in patients with esophageal cancer,and the relationship between gene mutations and clinical features,to study the interaction between various factors of esophageal cancer,and provide a possible target in the research of effective targeted therapeutic drugs.Materials and Methods:We used Next Generation Sequencing(NGS)technology to detect mutations in related genes in 40 specimens of esophageal cancer.All statistical analyses were performed using SPSS software(IBM SPSS Statistics 22).Kaplan-Meier single factor survival analysis was used to analyse how are gene mutations and clinical data related to overall survival(OS).P<0.05 was considered statistically significant.Result:Among the 40 cases of esophageal cancer pathology,39 cases had gene mutations,and 1 case did not detect any gene mutation.And showed the ten genes with the highest mutation rate,TTN(78%),TP53(60%),MUC16(52%),PLEC(52%),KMT2D(50%),FAT1(48%),MUC17(48%),OBSCN(48%),NOTCH1(45%),HSPG2(42%).The classification of gene mutations is mainly missense mutations,further subdividing the types of mutations,and DNA sequence polymorphisms,ie,single nucleotide polymorphisms(SNPs),which are caused by the single nucleotide mutations at the genome level,are most common.In the statistics of base mutations,the incidence of C>T substitution was the highest,and the frequency of T>C substitution was second.There is a significant correlation between the coexistence of mutations between TTN and CDH23.The detected gene mutations mainly involved RTK-RAS,NOTCH,and WNT signaling pathways.And showed a higher mean TMB in patients with esophageal cancer.Fisher's exact test using chi-square test showed that there was no statistical difference between TTN mutation and patient gender,age,pathological type,T stage,and lymph node metastasis,but there was a statistical difference between hot drinks and hot drinks.Kaplan-Meier single factor survival analysis showed that age,T stage,and lymph node metastasis were independent prognostic factors for patients with esophageal cancer.However,TTN mutations did not show a significant correlation with the survival of patients with esophageal cancer.Conclusion:Esophageal cancer is a highly lethal malignant tumor induced by multiple factors,multiple stages,multiple gene interactions,and mutual influence.The incidence of TTN mutations in the pathological specimens of 40 patients with esophageal cancer was the highest accounting for 78%.Patients with esophageal cancer have a higher mean TMB.The interaction between TTN mutation and hot drink hot food is involved in the occurrence of esophageal cancer.Age,T stage,and lymph node metastasis were independent prognostic factors in patients with esophageal cancer,but did not show that TTN mutation is also an independent factor affecting the prognosis of patients with esophageal cancer.