Best practice of BRAF V600E mutation testing for the diagnosis and management of thyroid cancers

BRAF V600E mutation is the single most common genetic alteration identified in papillary thyroid carcinoma. There is significant association between BRAF V600E mutation and aggressive tumor behavior. BRAF V600E mutation has also been found to be an independent predictor of treatment failure and tumor recurrence even in patients with low-stage disease. Pre-operative BRAF mutation testing of thyroid fine needle aspiration specimens has become a routine clinical practice that enhances the predictability of malignancy in indeterminate fine needle aspiration cytology specimens especially those in the follicular lesion of undetermined significance/atypia of undetermined significance category. In addition to histological evaluation of subsequent core needle biopsy and BRAF immunohistochemistry, an expanded panel of mutation testing including BRAF V600E, NRAS, HRAS, RET/papillary thyroid carcinoma and PAX8/PPARγ rearrangements are currently advocated to further improve the diagnostic predictability in the detection of thyroid carcinomas using cytological specimens.