期刊
ENDOCRINE PATHOLOGY
卷 20, 期 2, 页码 122-126出版社
HUMANA PRESS INC
DOI: 10.1007/s12022-009-9073-3
关键词
BRAF mutations; papillary thyroid carcinoma; solid variant
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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