The BRAFV600E mutation improve diagnostic sensitivity of thyroid nodules with benign or indeterminate cytology results / 中华内分泌外科杂志

ABSTRACT

Objective@#To investigate the role of BRAFV600E mutation in diagnosis of thyroid nodules when it is inconsonant with cytological results.@*Methods@#This study included 9837 patients who underwent US-FNA. We mainly analyzed 239 cases with benign or indeterminate cytology, but having a detection of BRAFV600E mutation. BRAFV600E mutation analysis was performed using a Amplification Refractory Mutation System Polymerase Chain Reaction.@*Results@#In 93 nodules with benign cytology results but positive BRAFV600E mutation, 84 nodules were malignant. Based on the results, US-FNA combined with BRAFV600E mutation analysis will improve sensitivity (Se=94.03%) and negative predictive value (NPV=2.69%) of the thyroid nodules diagnosis than using US-FNA alone (Se=71.03%, NPV=20.76%) .@*Conclusion@#BRAFV600E mutation analysis is an important tool in the diagnosis of PTC with high sensitivity and NPV. When facing patients with benign or indeterminate cytology but positive BRAFV600E mutation, thyroidectomy should be considered.