BRAFT1799A Mutation, RET / PTC Rearrangement On Preoperative Diagnosis Of Thyroid Papillary Carcinoma

Objective: To study the sensitivity and specificity of ultrasound-fine needle aspiration biopsy(US-FNAB) combined with the analysis of BRAFT1799A、RET/PTC rearrangements in preoperative diagnosis of papillary thyroid carcinoma(PTC) diagnosis in order to provide useful molecular biomarkers for preoperative precise diagnosis of PTC.Methods: Thyroid US-FNAB specimens which were diagnosed by the department of pathology from 346 nodules with suspicious malignancy risk of US features and 152 corresponding surgical samples were examined for the presence of BRAFT1799A、RET/PTC rearrangements by PCR. DNA sequencing and analysis were performed.Results: Of 346 nodules, 192 nodules were clinically observed, and 152 nodules underwent surgery, and 2 nodules refused suggestions of surgery. 51 BRAFT1799 A mutations were found in FNAB specimens, of which 36 nodules were cytologically diagnosed carcinoma and 11 were indeterminate and 4 were benign. 20 RET/PTC1 rearrangements were found in US-FNAB specimens, of which 17 nodules were cytologically diagnosed carcinoma and 2 were indeterminate and 1 follicular adenomas. 3 RET/PTC3 rearrangements were found in FNAB specimens which were cytologically diagnosed carcinoma. All nodules with above molecular biomarkers were confirmed PTC after thyroidectomy. BRAFT1799 A mutation analysis was performed on the surgical specimens from the 45 histologically diagnosed PTC that were negative in US-FNAB samplings. Only one case was negative. Molecular biomarkers analysis significantly enhanced the diagnostic value of cytology for PTC from73.96%to92.71%.Conclusions: Molecular biomarkers analysis can significantly enhance the diagnostic value of cytology for PTC and is also helpful for personal diagnosis and treatment.