Effect of BRAF V600E mutation detection of fine-needle aspiration biopsy on diagnosis and treatment guidance of papillary thyroid carcinoma

ObjectiveThe aim of this study was to evaluate the diagnostic value of detection of BRAF V600E mutation in the fine-needle aspiration cytology (FNAC) specimens of thyroid nodules and the relationship between BRAF V600E mutation and the clinicopathological characteristics of papillary thyroid carcinoma (PTC).MethodsA total of 252 patients who underwent initial thyroid surgery were retrospectively analysed. All the patients underwent a preoperative FNAC at our institution, and the thyroid puncture cell fluid was used for both the cytological diagnosis and BRAF V600E mutational analysis using quantitative polymerase chain reaction. The Cochran-Mantel-Haenszel test was used to evaluate the diagnostic value of BRAF V600E mutation in FNAC fluid in diagnosing PTC. The association between BRAF V600E mutation and the clinicopathological parameters of PTC was analysed using the χ² test.ResultsThrough FNAC, 21 (8%), 60 (24%), and 171 (68%) cases were cytologically diagnosed as benign, indeterminate, and malignant, respectively. Postoperatively, 242 cases were histopathologically diagnosed as PTCs and 10 as goitre nodules. In the FNAC samples, 12 (57 %) of the 21 benign, 48 (80 %) of the 60 indeterminate, and 152 (88.9 %) of the 171 malignant cases showed BRAF V600E mutation. The histopathological diagnosis was used as the gold standard. The sensitivity and specificity of BRAF V600E mutational analysis in the FNAC samples for the diagnosis of PTC were 91.7 % and 100 % in benign, 82.8 % and 100 % in the indeterminate, and 89.4 % and 100 % in the malignant cases, respectively.ConclusionBRAF V600E mutational analysis in FNAC samples of thyroid nodules can be used an effective supplementary diagnostic method at our institution. However, BRAF V600E mutation was not associated with aggressive characteristics in PTC.