A novel complex BRAF mutation detected in a solid variant of papillary thyroid carcinoma.
BRAF gene mutations are identified in about 45% of papillary thyroid carcinomas (PTC) and represent the most common genetic event in this tumor. Here, we report a case of PTC, solid variant, with a complex BRAF mutation that involves one nucleotide substitution, C1796T, and a CTT triplet insertion, 1798_1799insCTT, located on the same allele. This mutation leads to the replacement of a threonine with an isoleucine, T599I, and replacement of a valine with an alanine and a leucine, V600delinsAL. This mutation was identified both in the preoperative fine needle aspirate sample and in the surgical specimen after total thyroidectomy. Other rare BRAF mutations in PTC are reviewed.
Department of Pathology and Laboratory Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15261, USA. chioseasi@upmc.edu
Simion
S
Chiosea
Marina
M
Nikiforova
Hui
H
Zuo
Jennifer
J
Ogilvie
Manoj
M
Gandhi
Raja R
RR
Seethala
N Paul
NP
Ohori
Yuri
Y
Nikiforov
D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D016606:Thyroid Nodule / Q000235:genetics* / Q000473:pathology
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf