Chiosea Simion, Nikiforova Marina, Zuo Hui, Ogilvie Jennifer, Gandhi Manoj, Seethala Raja R, Ohori N Paul, Nikiforov Yuri
Department of Pathology and Laboratory Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Endocr Pathol. 2009 Summer;20(2):122-6. doi: 10.1007/s12022-009-9073-3.
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.
在约45%的甲状腺乳头状癌（PTC）中可检测到BRAF基因突变，该突变是此肿瘤中最常见的基因事件。在此，我们报告1例实体型PTC病例，其具有复杂的BRAF突变，该突变涉及1个核苷酸替换（C1796T）以及位于同一等位基因上的CTT三联体插入（1798_1799insCTT）。此突变导致苏氨酸被异亮氨酸取代（T599I），缬氨酸被丙氨酸和亮氨酸取代（V600delinsAL）。该突变在术前细针穿刺抽吸样本以及全甲状腺切除术后的手术标本中均被检测到。本文还对PTC中其他罕见的BRAF突变进行了综述。
