Study Of Genetic Mutation Of Thyroid Carcinoma Based On Next-generation Sequencing Assay

Objective:Next-generation sequencing(NGS)technology was used to detect gene mutations in thyroid cancer patients,analyze the association between medical traits of patients and gene mutations,and evaluate the clinical application of NGS technology.Methods:NGS technology was used to detect the gene mutations of 49 cases of thyroid cancer tumor tissue specimens confirmed by surgery and pathology from January to December 2020,which were admitted to the First Affiliated Hospital of Anhui Medical University.The gene mutations were statistically analyzed based on the clinical data of the patients.P<0.05 indicates that the results are statistically significant.Results:Among the 49 enrolled thyroid cancer patients,37 instances had gene mutations in tumor tissue samples,together with BRAF(61.22%),RET(4.08%),TSHR(4.08%),HRAS(2.04%),NRAS(2.04%),PDGFRA(2.04%),and POLD1(2,04%)Only 1 affected person had BRAF and TSHR gene mutations simultaneously,and the rest patients had single gene or no gene mutations.The mutation kinds have been all nonsynonymous_SNV,and the replacement rate of T>A was the highest among the base mutation types.In terms of pathological classification and cancer foci distribution,BRAF gene mutations are correlated(P<0.05).RET mutations associated with medullary thyroid carcinoma and TNM staging(P<0.05).Compared with the fluorescent quantitative PCR technology,the positive rate of BRAF gene mutation obtained by way of NGS technology was no longer statistically different(P<0.05)Conclusion:1.This study suggests that the use of NGS technology to detect thyroid cancer-related gene mutations is practical and feasible,provides us with a new method to assess the risk of thyroid cancer related gene.2.In this study,thyroid cancer patients have been detected with BRAF,RET,TSHR,HRAS,NRAS,PDGFRA and POLD1 gene mutations,among which BRAF gene mutation charge was the best of 61.22%.3.This study suggests that:BRAF gene mutation is associated with the distribution of papillary thyroid cancer and multifocal cancer;RET gene mutation is associated with medullary thyroid cancer and TNM staging;4.Using NGS technology to detect BRAF gene mutations in thyroid cancer can achieve the same level of clinical results as fluorescence quantitative PCR technology,furthermore,can detect more types of thyroid oncogene mutations,which is helpful to further understand the occurrence and development of thyroid cancer.