Division of Medical Oncology and Hematology, Northwell Health Cancer Institute, Lake Success, New York, USA
Clinical Health Professions, St John's University, Queens, New York, USA.
BMJ Case Rep. 2021 Aug 19;14(8):e243264. doi: 10.1136/bcr-2021-243264.
BRAF (v-raf murine sarcoma viral oncogene homolog B1) and MEK (mitogen-activated protein kinase kinase) inhibitors have been shown to improve clinical outcomes in tumours presenting with mutations in the gene. The most common form of BRAF mutation is V600E/K and has been shown to occur in thyroid cancers. Treatment data for patients harbouring less frequent BRAF mutations are limited. In vitro studies have shown that mutations in codons 599-601 increase kinase activity similar to that in V600E mutations, which suggests that BRAF and MEK inhibitors could be an effective treatment option. Here, we report a case of a patient with thyroid carcinoma harbouring a rare amino acid insertion in codon 599 of the gene (T599_V600insT) treated with a BRAF and MEK inhibitor.
BRAF（v-raf 鼠肉瘤病毒致癌基因同源物 B1）和 MEK（丝裂原活化蛋白激酶激酶）抑制剂已被证明可改善携带 基因突变的肿瘤的临床结局。最常见的 BRAF 突变形式是 V600E/K，并且已在甲状腺癌中发生。携带不太常见 BRAF 突变的患者的治疗数据有限。体外研究表明，密码子 599-601 中的突变增加激酶活性类似于 V600E 突变，这表明 BRAF 和 MEK 抑制剂可能是一种有效的治疗选择。在这里，我们报告了一例甲状腺癌患者，该患者携带 基因密码子 599 中的罕见氨基酸插入（T599_V600insT），并用 BRAF 和 MEK 抑制剂治疗。
