Microsatellite instability in colorectal cancer.
Microsatellite instability in colorectal cancer.
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DOI：
10.17179/excli2017-948
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发表时间：
2018
期刊：
影响因子：
4.6
通讯作者：
Sakhinia E
中科院分区：
文献类型：
--
作者：
Nojadeh JN;Behrouz Sharif S;Sakhinia E
结直肠癌（CRC）是一种异质性疾病，由遗传和环境因素相互作用引起。虽然它是世界上最常见的癌症之一，但如果在早期发现，CRC将是最可治愈的癌症之一。结肠直肠癌中发生的分子变化可分为三大类：1）染色体不稳定性（CIN），2）微卫星不稳定性（MSI）和3）CpG岛甲基化表型（CIMP）。微卫星，也被称为短串联重复序列（STR）是分散在整个基因组中的小（1-6个碱基对）重复DNA片段，约占人类基因组的3%。由于微卫星的重复结构，容易发生高突变率。微卫星不稳定性（Microsatellite instability，MSI）是由DNA错配修复（mismatch repair，MMR）系统缺陷导致的一种独特的分子变异和超突变表型，是指在相应的生殖细胞DNA中存在大小不同的重复DNA序列。MSI存在于散发性结肠癌、胃癌、散发性子宫内膜癌和大多数其他癌症中。大约15- 20%的结直肠癌显示MSI。确定结直肠癌的MSI状态具有预后和治疗意义。同样，检测MSI在诊断上用于肿瘤检测和分类。由于这些原因，微卫星不稳定性分析在结直肠癌患者中变得越来越重要。本文就结直肠癌的分类和微卫星不稳定性的诊断特点作一综述。
Colorectal cancer (CRC) is a heterogeneous disease that is caused by the interaction of genetic and environmental factors. Although it is one of the most common cancers worldwide, CRC would be one of the most curable cancers if it is detected in the early stages. Molecular changes that occur in colorectal cancer may be categorized into three main groups: 1) Chromosomal Instability (CIN), 2) Microsatellite Instability (MSI), and 3) CpG Island Methylator phenotype (CIMP). Microsatellites, also known as Short Tandem Repeats (STRs) are small (1-6 base pairs) repeating stretches of DNA scattered throughout the entire genome and account for approximately 3 % of the human genome. Due to their repeated structure, microsatellites are prone to high mutation rate. Microsatellite instability (MSI) is a unique molecular alteration and hyper-mutable phenotype, which is the result of a defective DNA mismatch repair (MMR) system, and can be defined as the presence of alternate sized repetitive DNA sequences which are not present in the corresponding germ line DNA. The presence of MSI is found in sporadic colon, gastric, sporadic endometrial and the majority of other cancers. Approximately, 15-20 % of colorectal cancers display MSI. Determination of MSI status in CRC has prognostic and therapeutic implications. As well, detecting MSI is used diagnostically for tumor detection and classification. For these reasons, microsatellite instability analysis is becoming more and more important in colorectal cancer patients. The objective of this review is to provide the comprehensive summary of the update knowledge of colorectal cancer classification and diagnostic features of microsatellite instability.
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