Proper Indication of BRAFV600E Mutation Testing in Fine-Needle Aspirates of Thyroid Nodules

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Authors: Jieun Koh ; Eun-Kyung Kim ; Jung Hyun Yoon ; Hee Jung Moon ; Jin Young Kwak ; Jong Rak Choi ; Kyung Hwa Han

MeSH: Adult ; Endoscopic Ultrasound-Guided Fine Needle Aspiration ; Humans ; Middle Aged ; Mutation* ; Proto-Oncogene Proteins B-raf/genetics* ; Reproducibility of Results ; Sensitivity and Specificity ; Thyroid Nodule/diagnosis ; Thyroid Nodule/genetics* ; Thyroid Nodule/pathology*

Keywords: Adult ; Endoscopic Ultrasound-Guided Fine Needle Aspiration ; Humans ; Middle Aged ; Mutation* ; Proto-Oncogene Proteins B-raf/genetics* ; Reproducibility of Results ; Sensitivity and Specificity ; Thyroid Nodule/diagnosis ; Thyroid Nodule/genetics* ; Thyroid Nodule/pathology*

Abstract: Background

The aim of this study was to evaluate the proper indication of adjunctive BRAFV600E mutation analysis at the time of ultrasound-guided fine-needle aspiration in the diagnosis of thyroid nodules.

Methods

This study included 518 nodules in 479 patients who underwent ultrasound-guided fine-needle aspiration with BRAFV600E mutation. We calculated and compared the diagnostic performances of cytology and cytology with BRAFV600E mutation analysis to detect malignancy among thyroid nodules according to ultrasound features and size.

Results

Sensitivity, negative predictive value, and accuracy of cytology with BRAFV600E mutation analysis were significantly higher than those of cytology alone in thyroid nodules with suspicious ultrasound features, regardless of size. Diagnostic performances did not show significant differences between cytology and cytology with BRAFV600E mutation analysis in nodules without any suspicious ultrasound features, regardless of size.

Conclusion

The BRAFV600E mutation analysis was a useful adjunctive diagnostic tool in the diagnosis of thyroid nodules with suspicious ultrasound features regardless of size.