Gene Mutation And Clinical Feature Research In Papillary Thyroid Carcinoma By Next Generation Of Sequencing

Papillary thyroid carcinoma(PTC) is the most common type of thyroid carcinoma with an average 5-year survival rate of 97.9%. However, some patients die of poor prognosis.Because of the rising incidence of thyroid cancer and detection of subclinical nodules,a risk assessment method for identifying high risk population and guiding clinical decision is needed. Recently significant progress has been made in study about PTC molecular markers.BRAF mutation served as an excellent biomarker in diagnose and aggressive behavior. BRAF mutation coexistence with multiple genetic changes in the thyroid cancer maybe is an specific marker too. In this study, a 46 tumors pathogenic pathway gene chip was used to testing genetic changes in 52 adult PTC.we detected 29 BRAF mutations of 52 adult PTC and found 6 cases harbor PIK3 CA mutations, two cases harbor TP53 mutations.we detected PTEN gene deletion in two cases and APC mutations in three cases and STK11 mutations in three cases.There were 6 patients involved an BRAF mutations overlap with other genetic changes. We collected demographic data,tumor size, lymph node metastasis, the associating with Hashimoto disease, multiple lesions or single lesion, TNM stage, risk stratification.In addition we examined the correlation between the BRAF mutation and various clinical parameters. The results showed that BRAF mutations are associated with gender(P <0.05) but we failed to find anyassociation between BRAF mutation and other parameters.gender is also not an independent risk factor with BRAF mutation.So BRAF mutations have no prognostic value in patients with papillary thyroid cancer.Chi-square trend test found PIK3 CA mutations was not correlated with TNM stage but the finding suggests the possibility that PIK3 CA mutations increase the risk of progression of PTC.Six patients among high-risk stratification showed more than one mutation, suggesting that the combined effects of multiple genes changes may be related with invasive papillary thyroid carcinoma.