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Utility of BRAF Mutation Detection in Fine Needle Aspiration of the Thyroid
*Sean Conus1, Dougald MacGillivray2, *Michael Jones1
1Maine Medical Center, Portland, ME;2Maine Surgical Care Group, Portland, ME

Objective: Review the usefulness of adding BRAF mutational analysis to the standard morphologic interpretation in thyroid FNA.
Design: Blinded retrospective review of BRAF mutational analysis of 426 consecutive thyroid FNA specimens between 5/2011 and 8/2011.
Setting: Single institution, tertiary care center.
Patients: Those undergoing thyroid FNA for a variety of reasons, mainly due to a mass or nodule.
Interventions: None.
Main Outcome Measures: Comparison between BRAF analysis results and surgical pathology results (gold standard) allows for assessment of the positive predictive value. In addition, correlation between BRAF results and final pathology for atypical or suspicious cytology specimens helps gauge the usefulness of this relatively new study for specimens in which the decision for surgical intervention is not entirely clear.
Results: Positive predictive value for BRAF analysis was 89%, but 55% of these were in cytologic categories that require surgical removal. BRAF mutational detection of suspicious or unsatisfactory cytologic specimens was mixed.
Conclusions: The mutational assay had a high positive predictive value, but there was no utility for BRAF mutation detection in resolving atypical cytologies. It is not useful in cases with cytologies that are positive or suspicious for papillary carcinoma, but it may have a role in clarifying cases suspicious for follicular neoplasm which are, in fact, papillary carcinomas. Determining the aggressiveness of BRAF-positive tumors compared to BRAF-negative tumors warrants further investigation.


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