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丝氨酸/苏氨酸鼠类肉瘤滤过性毒菌致癌同源体B1基因(v-raf murine sarcoma viral oncogene homolog,BRAF)是RAF家族中的一种原癌基因.大约有8%的人类肿瘤发生BRAF突变,该突变导致丝裂原活化蛋白激酶(mitogen-activated protein kinase,MAPK)信号通路持续活化,引发细胞异常增殖,肿瘤发生.研究发现成釉细胞瘤中存在MAPK信号通路的相关突变基因,其中BRAF-V600E是最显著的突变类型.这一发现为成釉细胞瘤的靶向治疗提供了新方向,成釉细胞瘤分子病理研究取得重大进展.本文就BRAF基因突变在成釉细胞瘤中的研究进展及其潜在临床意义作一综述.

V-raf murine sarcoma viral oncogene homolog B1 (BRAF) is a pro-oncogene, which is one member of the RAF family. Mutated BRAF is found in approximately 8% of human tumors. BRAF gene mutations lead to continuous activation of the mitogen-activatd protein kinase (MAPK) pathway, which resulting in abnormal cell proliferation and tumorigenesis. In recent years, recurrent MAPK signaling mutations were identified in ameloblastoma, among which BRAF-V600E is the most prominent type. This provides new strategies for the targeted treatment of ameloblastoma. This paper reviewed the latest advances in BRAF gene mutation associated with ameloblastoma and its potential clinical significance.