Abstract
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 BRAFV600E 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 BRAFV600E mutation analysis with 19 false negative and 2 false positive cases. The sensitivity, specificity, positive and negative predictive values, and accuracy of BRAFV600E 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 BRAFV600E mutation analysis only be performed for evaluating thyroid nodules with Bethesda category III, regardless of US diagnosis.
Highlights
Ultrasonography (US)-guided fine-needle-aspiration (FNA) is a simple and accurate tool for evaluating thyroid nodules [1]
BRAFV600E mutations are associated with early tumorigenesis and aggressive behavior of papillary thyroid carcinoma (PTC), and are considered a specific marker of PTC [5, 6]
The final diagnoses of the 200 thyroid nodules were determined as follows: (1) histopathological analysis (n = 106); (2) benign diagnoses according to US and cytology, with no US follow-up (n = 59); and (3) indeterminate or malignant on US, but benign cytological results based on both initial and repeated US-guided FNAs (n = 35)
Summary
Ultrasonography (US)-guided fine-needle-aspiration (FNA) is a simple and accurate tool for evaluating thyroid nodules [1]. With the rising incidence of thyroid cancer and improved nodule detection methods, more thyroid nodules are evaluated by US-guided FNA and cytology. These techniques have several limitations, such as operator dependency, different results according to nodular composition and size, false negative or positive cytological findings, and indeterminate cytology [1]. Genetic alterations have been shown to play a pathogenetic role in thyroid tumorigenesis, and several molecular markers have been investigated for their applicability to thyroid FNA [3, 4]. BRAFV600E mutations are associated with early tumorigenesis and aggressive behavior of papillary thyroid carcinoma (PTC), and are considered a specific marker of PTC [5, 6]
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
