AIM: We aimed to determine the BRAF mutation and AKAP9 expression in papillary thyroid carcinomas (PTCs). METHODS AND RESULTS: In this study, we analysed 100 sporadic PTC specimens and we detected mutation in 62.2% of the conventional type PTCs (51/82), in 50% of the follicular variant type PTCs (3/6), in 50% of the diffuse sclerosing variant type PTCs (1/2), and in 30% of the microcarcinomas (3/10). All mutations involved a T-->A transversion at the nucleotide 1796. The cases with BRAF mutation were significantly associated with extrathyroidal extension. We also evaluated the expression of AKAP9 protein by immunohistochemistry. The AKAP9 protein was seen as a single perinuclear dot in all the PTCs. Therefore, 58% of the specimens harboured the BRAF mutation and no case had AKAP9-BRAF fusion in the sporadic PTCs. CONCLUSION: Our results suggest that the BRAF mutation can be a useful diagnostic and prognostic marker and a target for exploring novel cancer therapies to treat PTCs. AKAP9-BRAF fusion may be a very rare event in sporadic PTCs.
AIM: We aimed to determine the BRAF mutation and AKAP9 expression in papillary thyroid carcinomas (PTCs). METHODS AND RESULTS: In this study, we analysed 100 sporadic PTC specimens and we detected mutation in 62.2% of the conventional type PTCs (51/82), in 50% of the follicular variant type PTCs (3/6), in 50% of the diffuse sclerosing variant type PTCs (1/2), and in 30% of the microcarcinomas (3/10). All mutations involved a T-->A transversion at the nucleotide 1796. The cases with BRAF mutation were significantly associated with extrathyroidal extension. We also evaluated the expression of AKAP9 protein by immunohistochemistry. The AKAP9 protein was seen as a single perinuclear dot in all the PTCs. Therefore, 58% of the specimens harboured the BRAF mutation and no case had AKAP9-BRAF fusion in the sporadic PTCs. CONCLUSION: Our results suggest that the BRAF mutation can be a useful diagnostic and prognostic marker and a target for exploring novel cancer therapies to treat PTCs. AKAP9-BRAF fusion may be a very rare event in sporadic PTCs.
Authors: Kathleen C Lee; Carol Li; Eric B Schneider; Yongchun Wang; Helina Somervell; Matthew Krafft; Christopher B Umbricht; Martha A Zeiger Journal: Surgery Date: 2012-10-11 Impact factor: 3.982
Authors: Kerry J Schimenti; Sky K Feuer; Laurie B Griffin; Nancy R Graham; Claire A Bovet; Suzanne Hartford; Janice Pendola; Carl Lessard; John C Schimenti; Jeremy O Ward Journal: Genetics Date: 2013-04-22 Impact factor: 4.562