Advance in plasma SEPT9 gene methylation assay for colorectal cancer early detection.
Advance in plasma SEPT9 gene methylation assay for colorectal cancer early detection.
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DOI：
10.4251/wjgo.v10.i1.15
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发表时间：
2018-01-15
影响因子：
3
通讯作者：
Liu RB
中科院分区：
文献类型：
--
作者：
Wang Y;Chen PM;Liu RB
本文就血浆SEPT 9基因甲基化检测在结直肠癌临床检测中的研究进展及其局限性进行综述。结直肠癌是一种常见的恶性肿瘤，预后差，死亡率高，早期发现和诊断对于高危人群尤为重要。越来越多的证据支持SEPT 9基因甲基化与结直肠癌的发病相关，检测外周血中SEPT 9的甲基化水平可用于结直肠癌易感人群的筛查。近年来的临床研究数据表明，SEPT 9基因甲基化检测对结直肠癌（CRC）的诊断具有良好的敏感性和特异性，与粪便隐血试验和癌胚抗原检测相比，SEPT 9基因甲基化检测具有更好的可接受性、方便性和与血清学检测的依从性。此外，多种方法或标志物的组合已经成为CRC检测和筛查的增长趋势。尽管如此，甲基化SEPT 9检测试剂盒的临床可用性仍然有限，因为人口统计学特征、病理学特征、合并症和/或技术选择导致了较大程度的样本异质性。另一个因素是结直肠癌筛查策略的成本效益，这阻碍了其大规模应用。此外，需要提高其检测腺瘤和癌前息肉的准确性。
This review article summarizes the research advances of the plasma-based SEPT9 gene methylation assay for the clinical detection of colorectal cancer and its limitations. Colorectal cancer is a common malignancy with a poor prognosis and a high mortality, for which early detection and diagnosis are particularly crucial for the high-risk groups. Increasing evidence supported that SEPT9 gene methylation is associated with the pathogenesis of colorectal cancer and that detecting the level of methylation of SEPT9 in the peripheral blood can be used for screening of colorectal cancer in susceptible populations. In recent years, the data obtained in clinical studies demonstrated that the SEPT9 gene methylation assay has a good diagnostic performance with regard to both sensitivity and specificity with the advantage of better acceptability, convenience and compliance with serological testing compared with fecal occult blood tests and carcinoembryonic antigen for colorectal cancer (CRC). Furthermore, the combination of multiple methods or markers has become a growing trend for CRC detection and screening. Nevertheless, the clinical availability of the methylated SEPT9 assay is still limited because of the large degree of sample heterogeneity caused by demographic characteristics, pathological features, comorbidities and/or technique selection. Another factor is the cost-effectiveness of colorectal cancer screening strategies that hinders its large-scale application. In addition, improvements in its accuracy in detecting adenomas and premalignant polyps are required.