Published in:
01-06-2009
A Novel Complex BRAF Mutation Detected in a Solid Variant of Papillary Thyroid Carcinoma
Authors:
Simion Chiosea, Marina Nikiforova, Hui Zuo, Jennifer Ogilvie, Manoj Gandhi, Raja R. Seethala, N. Paul Ohori, Yuri Nikiforov
Published in:
Endocrine Pathology
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Issue 2/2009
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Abstract
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.