Hyperfunctioning Papillary Thyroid Carcinoma with a < b > < i > BRAF < /i > < /b > Mutation: The First Case Report and a Literature Review

Conclusions: We report a case of hyperfunctioning PTC with aBRAF V600E mutation for the first time. Our literature search yielded 16 cases of hyperfunctioning thyroid carcinoma in which a mutational analysis was conducted. We identifiedTSHR mutations in 13 of these cases. One case revealed a combination ofTSHR andKRAS mutations; the other case revealed aTSHR mutation with aPAX8/PPARG rearrangement. These findings suggest that the concomitant activation of oncogenes (in addition to constitutive activation of the TSHR-cyclic AMP cascade) are associated with the malignant phenotype in hyperfunctioning thyroid nodules.Eur Thyroid J
Source: European Thyroid Journal - Category: Endocrinology Source Type: research