A Novel Complex BRAF Mutation Detected in a Solid Variant of Papillary Thyroid Carcinoma |
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| Authors: | Simion Chiosea Marina Nikiforova Hui Zuo Jennifer Ogilvie Manoj Gandhi Raja R. Seethala N. Paul Ohori Yuri Nikiforov |
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| Affiliation: | (1) Department of Pathology and Laboratory Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA;(2) Department of Surgery, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA;(3) Department of Pathology, Presbyterian Hospital, University of Pittsburgh Medical Center, PUH A616.2, 200 Lothrop Street, Pittsburgh, PA 15213, USA |
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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. |
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| Keywords: | BRAF mutations papillary thyroid carcinoma solid variant |
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