Utility of including BRAF mutation analysis with ultrasonographic and cytological diagnoses in ultrasonography-guided fine-needle aspiration of thyroid nodules

作者：Kim Da Som^*; Kim Dong Wook^*; Heo Young Jin; Baek Jin Wook; Lee Yoo Jin; Choo Hye Jung; Park Young Mi; Park Ha Kyoung; Ha Tae Kwun; Kim Do Hun^*; Jung Soo Jin; Park Ji Sun; Ahn Ki Jung; Baek Hye Jin; Kang Taewoo

来源：PLos One, 2018, 13(8): e0202687.

DOI：10.1371/journal.pone.0202687

This study investigated the role of BRAF mutation analysis in thyroid fine-needle aspiration (FNA) samples compared to ultrasonographic and cytological diagnoses. A total 316 patients underwent ultrasonography (US)-guided FNA with BRAF(V)(600E) mutation analysis to diagnose thyroid nodules. One hundred sixteen patients with insufficient US images (n = 6), follow-up loss (n = 43), or unknown final diagnosis (n = 67) were excluded from the study. Comparisons between US diagnoses, cytological diagnoses, and BRAF mutation analysis were performed. Of 200 thyroid nodules, there was US diagnosis with 1 false negative and 11 false positive cases, cytological diagnosis with 10 false negative and 2 false positive cases, and BRAF(V600E) mutation analysis with 19 false negative and 2 false positive cases. The sensitivity, specificity, positive and negative predictive values, and accuracy of BRAF(V600E) mutation analysis were 83.2%, 98.1%, 97.5%, 86.6%, and 91%, respectively. Of the 18 nodules with Bethesda category III, 9 were true positive, 6 were true negative, 3 was a false negative, and none were false positive on BRAF mutation analysis. In conclusion, we recommend that BRAF(V600E) mutation analysis only be performed for evaluating thyroid nodules with Bethesda category III, regardless of US diagnosis.

• 出版日期2018-8-17