GNAQ/GNA11突变在葡萄膜黑色素瘤中的研究进展

摘要

Uveal melanoma (UM) is the most common primary intraocular tumor in adults,which not only affects patients' visual function,but easily leads to death.Despite the advance in local treatments of UM,there has been no change in patients' survival for three decades.The main reason is lack of knowledge about the pathogenesis of UM.GNAQ and GNA11 are responsible for encoding q polypeptide of α subunit in G protein.Many studies indicate that GNAQ and GNA11 have the high mutation rate in UM,which may drive early tumor growth.This paper describes the function changes after GNAQ and GNA11 mutation,and some signaling pathways related to the proliferation of UM.We hope to provide a little enlightenment for the early screening and targeted drug research of UM.%葡萄膜黑色素瘤(UM)是成人眼内常见的原发性恶性肿瘤,不仅影响患者的视功能,还易导致死亡.虽然近30年涌现了许多UM的局部治疗方法,但患者的生存率一直未得到改善,主要原因是对于UM的发病机制所知甚少.GNAQ和GNA11基因负责编码G蛋白α亚基q族多肽,许多研究表明这2种基因在UM中具有很高的突变率,可能驱动UM的早期生长.本文就GNAQ和GNA11突变后的功能学改变,以及基因突变所致UM恶性增生相关的信号通路展开综述,以期为UM的早期筛查和靶向药物研究提供参考.