曲美替尼
达布拉芬尼
医学
癌症研究
突变
甲状腺癌
V600E型
肉瘤
癌基因
激酶
MEK抑制剂
甲状腺癌
蛋白激酶A
MAPK/ERK通路
肿瘤科
甲状腺
内科学
基因
威罗菲尼
癌症
病理
黑色素瘤
生物
遗传学
转移性黑色素瘤
细胞周期
作者
Chung-Shien Lee,Emily Miao,Kasturi Das,Nagashree Seetharamu
出处
期刊:Case Reports
[BMJ]
日期:2021-08-01
卷期号:14 (8): e243264-e243264
被引量:1
标识
DOI:10.1136/bcr-2021-243264
摘要
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 BRAF 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 BRAF gene (T599_V600insT) treated with a BRAF and MEK inhibitor.
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