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结直肠癌液体活检中的微卫星不稳定性——关于其在非侵入性检测、预后及作为预测标志物方面潜力的最新进展

Microsatellite Instability in Colorectal Cancer Liquid Biopsy-Current Updates on Its Potential in Non-Invasive Detection, Prognosis and as a Predictive Marker.

作者信息

Tieng Francis Yew Fu, Abu Nadiah, Lee Learn-Han, Ab Mutalib Nurul-Syakima

机构信息

UKM Medical Molecular Biology Institute (UMBI), Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.

Novel Bacteria and Drug Discovery Research Group, Microbiome and Bioresource Research Strength, Jeffrey Cheah School of Medicine and Health Sciences, Monash University Malaysia, Selangor 47500, Malaysia.

出版信息

Diagnostics (Basel). 2021 Mar 18;11(3):544. doi: 10.3390/diagnostics11030544.

DOI:10.3390/diagnostics11030544
PMID:33803882
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8003257/
Abstract

Colorectal cancer (CRC) is the third most commonly-diagnosed cancer in the world and ranked second for cancer-related mortality in humans. Microsatellite instability (MSI) is an indicator for Lynch syndrome (LS), an inherited cancer predisposition, and a prognostic marker which predicts the response to immunotherapy. A recent trend in immunotherapy has transformed cancer treatment to provide medical alternatives that have not existed before. It is believed that MSI-high (MSI-H) CRC patients would benefit from immunotherapy due to their increased immune infiltration and higher neo-antigenic loads. MSI testing such as immunohistochemistry (IHC) and PCR MSI assay has historically been a tissue-based procedure that involves the testing of adequate tissue with a high concentration of cancer cells, in addition to the requirement for paired normal tissues. The invasive nature and specific prerequisite of such tests might hinder its application when surgery is not an option or when the tissues are insufficient. The application of next-generation sequencing, which is highly sensitive, in combination with liquid biopsy, therefore, presents an interesting possibility worth exploring. This review aimed to discuss the current body of evidence supporting the potential of liquid biopsy as a tool for MSI testing in CRC.

摘要

结直肠癌(CRC)是全球第三大常见诊断癌症,在人类癌症相关死亡率中排名第二。微卫星不稳定性(MSI)是林奇综合征(LS)的一个指标,LS是一种遗传性癌症易感性疾病,也是预测免疫治疗反应的预后标志物。免疫治疗的最新趋势改变了癌症治疗方式,提供了以前不存在的医学选择。据信,微卫星高度不稳定(MSI-H)的结直肠癌患者会因免疫浸润增加和新抗原负荷较高而从免疫治疗中获益。诸如免疫组织化学(IHC)和聚合酶链反应微卫星不稳定性检测(PCR MSI检测)等MSI检测在历史上一直是一种基于组织的程序,除了需要配对的正常组织外,还需要检测含有高浓度癌细胞的足够组织。此类检测的侵入性本质和特定前提条件可能会在无法进行手术或组织不足时阻碍其应用。因此,高度敏感的下一代测序与液体活检相结合的应用,呈现出一个值得探索的有趣可能性。本综述旨在讨论当前支持液体活检作为结直肠癌MSI检测工具潜力的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e814/8003257/5d3ceb83fb7d/diagnostics-11-00544-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e814/8003257/3594a8a9185a/diagnostics-11-00544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e814/8003257/5d3ceb83fb7d/diagnostics-11-00544-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e814/8003257/3594a8a9185a/diagnostics-11-00544-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e814/8003257/5d3ceb83fb7d/diagnostics-11-00544-g002.jpg

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Circulating Tumor DNA Analysis in Colorectal Cancer: From Dream to Reality.结直肠癌中的循环肿瘤DNA分析:从梦想走向现实
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基于下一代测序的结直肠癌循环肿瘤DNA分析的当前问题
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