文章摘要

DNA甲基化在结直肠癌诊断中的研究进展

作者: 1李佳, 1程彩霞
1 山西医科大学第一临床医学院病理科,太原 030001
通讯: 程彩霞 Email: xiaopi080721@163.com
DOI: 10.3978/j.issn.2095-6959.2020.09.043
基金: 国家自然科学基金(81602458);山西省优秀青年基金(201701D211010);山西省研究生教育创新项目(2019SY249);山西医科大学科技创新基金(01201505);山西医科大学博士启动基金(BS03201628)。

摘要

随着表观遗传学中DNA甲基化的深入研究,人们发现CpG岛(CpG island)DNA甲基化在结直肠癌(colorectal cancer,CRC)的临床诊断中发挥重要作用。目前,研究证实检测CRC患者组织、粪便和血液中基因的异常甲基化在CRC的早期筛查和诊断中具有很高的敏感性和特异性。本文就胞裂蛋白9(septin 9,SEPT9)、多配体聚糖2前体(syndecan 2 precursor,SDC2)、波形蛋白(vimentin,VIM)、p16和长散布核苷酸元件-1(long interspersed nucleotide element-1,LINE-1)5个基因的甲基化及其在CRC诊断中的相关进展进行了综述。
关键词: 结直肠癌;胞裂蛋白9;多配体聚糖2前体;波形蛋白;p16;长散布核苷酸元件-1

Progress in DNA methylation in the diagnosis of colorectal cancer

Authors: 1LI Jia, 1CHENG Caixia
1 Department of Pathology, First Hospital of Shanxi Medical University, Taiyuan 030001, China

CorrespondingAuthor: CHENG Caixia Email: xiaopi080721@163.com

Foundation: This work was supported by the National Natural Science Foundation (81602458), the Youth Foundation of Shanxi Province (201701D211010), the Education Innovation Project of Graduate of Shanxi Province (2019SY249), the Innovation in Science & Technology Foundation of Shanxi Medical University (01201505), and the Startup Foundation for Doctors of Shanxi Medical University (BS03201628), China.

Abstract

With the development of research on DNA methylation in epigenetics, CpG island DNA methylation has been found to play an important role in the clinical diagnosis of colorectal cancer (CRC). At present, numerous researches have confirmed that the detection of abnormal methylation of genes in tissues, stool and blood of CRC patients has high sensitivity and specificity for early CRC screening and diagnosis. This review summarizes the methylation of five genes which have been investigated clearly, including septin 9 (SEPT9), syndecan 2 precursor (SDC2), vimentin (VIM), p16, and long interspersed nucleotide element-1 (LINE-1), and their progress in diagnosis of CRC.
Keywords: colorectal cancer; septin 9; syndecan 2 precursor; vimentin; p16; long interspersed nucleotide element-1