BRAF gene mutation (V600E) in aspiration cytology of patients with suspected papillary thyroid carcinoma

Abstract

Abstract Introduction: This study was attempted to investigate the prevalence of BRAF gene mutation (V600E) in aspiration cytology of patients with suspected papillary thyroid carcinoma (PTC). Materials and methods: Seventy six Patients suspected of having PTC who referred for fine needle aspiration (FNA) biopsy were included in this cross-sectional study. Ultrasound-guided FNA was taken from the thyroid masses and samples were sent for cytologic evaluation. Simultaneously, the samples were sent to a genetic laboratory to check the status of BRAFV600E mutation. Patients with FNA positive for PTC were assigned in one group and those with FNA negative for PTC were assigned in other group. Cytological and molecular results were compared with those of histopathology and sonography. Results: The results showed that the prevalence of the BRAF gene (V600E) mutation in our study was 21.1% (16 out of 76 patients). In addition the results showed a significant relation between gene mutation and pathologic findings so that the highest gene mutation was significantly detected in patients with FNA positive for PTC (p.value=0.001). Also, our results showed a significant relation between gene mutation and some sonographic findings (calcification, p.value=0.004) and no significant relation in the other sonographic findings (hypo echoic changes, p.value=1.12 and regular changes, p.value=0.194). Conclusion: According to the results of the present study, BRAF mutation (V600E) can be an effective indicator for definitive diagnosis and primary treatment of PTC in suspected cases.

Keywords

• papillary thyroid cancer
• fine needle aspiration
• BRAF gene (V600E) mutation
• ultrasound