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基于血液DNA甲基化测定用于结直肠癌早期检测的进展:系统更新的综述

Milad Khabbazpour¹, Masoud Tat¹, Ashraf Karbasi²

¹Human Genetics Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran.

Gastroenterology and hepatology from bed to bench

|September 23, 2024

概括

甲基化循环瘤DNA (ctDNA) 显示出早期结直肠癌 (CRC) 检测的希望. 本次审查确定了临床使用的关键ctDNA生物标志物和技术挑战.

科学领域:

在瘤学瘤学.
分子诊断学分子诊断学
基因组学就是基因组学.

背景情况:

结肠直肠癌 (CRC) 是全球癌症死亡的主要原因.
早期检测显著改善了CRC治疗结果.
非侵入性甲基化循环瘤DNA (ctDNA) 测试为CRC检测和监测提供了一个有前途的方法.

研究的目的:

在过去十年中,系统地审查甲基化ctDNA标记物用于早期CRC检测.
确定阻碍这些标记物的临床实施的关键技术挑战.

主要方法:

在Web of Science,PubMed和Scopus进行了全面的文献搜索.
包括2012年至2023年12月发表的文章,重点研究了先进腺瘤/0-II期样本的研究.
在选694个已识别的出版物后,选择了62篇相关文章.

主要成果:

MYO1-G,SEPT9,SDC2和JAM3表现出高灵敏度作为单个生物标志物,用于聚和早期的CRC.
几种多生物标志物组合显示出适当的敏感性,包括SFRP1/SFRP2/SDC2/PRIMA1/ALX4和其他涉及BMP3,NPTX2,RARB,SEPT9,VIM,ZFHX4,ZNF334,ELOVL2,UNC5C,LOC146880,SFMBT2和GFRA1.1的组合.

结论:

提高分子查的灵敏度和特异性对于增强的CRC检测至关重要.
鉴定一组有限的高价值生物标志物对于成本效益至关重要,尽管在早期疾病中具有低ctDNA水平的挑战.

关键词:

癌症生物标志物癌症生物标志物循环瘤DNA是循环中的瘤DNA.结肠直肠癌是一种癌症.通过DNA甲基化.早期检测早期检测液体活检液体活检

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