GNAQ突变在黑色素瘤中的相关研究进展

Related research and progression of GNAQ mutation in melanoma

鸟嘌呤核苷酸结合蛋白q多肽(guanine nucleotide binding protein q polypeptide,GNAQ)基因编码q类G蛋白α亚基成员,其突变可导致G蛋白耦联受体组成型激活,进而激活包括丝裂原激活的蛋白激酶、Yes相关蛋白、磷脂酰肌醇3激酶、ADP-核糖基化因子6等下游信号通路及第二信使。GNAQ突变主要发生于葡萄膜黑色素瘤、中枢神经系统黑色素肿瘤,在皮肤和黏膜黑色素瘤中罕见。靶向GNAQ及其下游信号通路的抗肿瘤治疗,目前均在探索中,随着对其信号通路的深入了解,必将推动黑色素瘤尤其是葡萄膜黑色素瘤治疗的进展。

Guanine nucleotide binding protein q polypeptide (GNAQ) gene encodes the q type of the α subunit of certain heterotrimeric G-proteins,and its mutations can lead to constitutive activation of G protein-coupled receptor,triggering multiple downstream signaling pathways and second messengers including mitogen-activated protein kinase,Yes associated protein,phosphoinositide 3-kinase,ADP-ribosylation factor 6.GNAQ mutations are common in uveal melanoma and central nervous system melanoma,whereas rare in skin and mucosal melanoma.Anti-tumor therapies targeting GNAQ and its downstream signaling pathways are currently under exploration.A thorough understanding of the signaling pathways orchestrated by GNAQ will certainly make significant progressions in the treatments of melanoma,especially uveal melanoma.