结直肠癌CpG岛甲基化表型的研究进展

CpG island methylator phenotype in colorectal cancer

结直肠癌(colorectal cancer,CRC)是常见的恶性肿瘤之一,是由遗传学和表观遗传学改变逐渐积累导致的.随着一类被称为"CpG岛甲基化表型(CpG island methylator phenotype,CIMP)"的CRC被发现,表观遗传学修饰在CRC发病中的作用就受到了越来越多的重视.CIMP是一类基因组中有高比例的基因启动子区发生了DNA高甲基化的CRC.目前研究显示CIMP具有多个分子水平的特征,而且CIMP与多个临床特征显著相关,但是还不清楚CIMP的具体致病原因和发病机制.CIMP在治疗上的预后和反应与其他CRC存在很大差异,但是目前没有被广泛认可的鉴定CIMP的生物标记,从而阻止了CIMP用于指导临床上CRC的个体化治疗.

Colorectal cancer （CRC） is one of the most common malignancies worldwide and is caused by accumulation of genetic and epigenetic changes. With the discovery of CpG island methylator phenotype （CIMP）, more and more studies have focused on epigenetic modifications in CRC. CIMP is found in a subset of CRC with an exceptionally high frequency of methylated genes. Current research shows that CIMP has several molecular characteristics and is significantly associated with multiple clinicopathological features, but the mechanim of CIMP is still unclear. The prognosis and treatment response in CRC with CIMP are largely different form those of other CRCs, however, the absence of widely accepted CIMP biomarkers has prevented the clinical applications of CIMP to guide the personalized therapy of CRC.