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.
Chiosea
Simion
S
Department of Pathology and Laboratory Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15261, USA. chioseasi@upmc.edu
Nikiforova
Marina
M
Zuo
Hui
H
Ogilvie
Jennifer
J
Gandhi
Manoj
M
Seethala
Raja R
RR
Ohori
N Paul
NP
Nikiforov
Yuri
Y
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