BRAF、NRAS癌基因与恶性黑素瘤的研究

近年来,世界范围内黑素瘤的发生率正逐渐升高,发病年龄也愈来愈早,其死亡率也随之增加.环境因素和遗传易感因素是恶性黑素瘤发病的主要机制.遗传易感性的研究发现,与散发性恶性黑素瘤发病密切相关的两个遗传易感基因是位于RAS-RAF-MEK-ERK途径的BRAF、NRAS基因.其中BRAF基因是黑素瘤中突变率最高的基因,也是目前黑素瘤特异性靶向治疗研究的热点基因.概述BRAF、NRAS基因突变在恶性黑素瘤形成、发生、发展中所起的重要作用,并评述BRAF基因突变在黑素瘤临床诊治上的应用价值.

BRAF and NRAS oncogenes and malignant melanoma

Recently,there has been a gradual rise in the incidence and mortality of melanoma,and the age at onset of melanoma has tended to be younger.Environmental and genetic susceptibility factors compose the major mechanisms of malignant melanoma.Studies have shown that BRAF and NRAS genes in the RASRAF-MEK-ERK pathway are closely associated with the pathogenesis of sporadic malignant melanoma.BRAF appears to be the most frequently mutated gene in melanoma,and is also a research focus in the specific targeted therapy of melanoma.This paper describes the important roles of BRAF and NRAS mutations in the formation,occurrence and development of melanoma,as well as the value of BRAF mutation in the diagnosis and treatment of melanoma.