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循环肿瘤DNA检测微小残留病的方法及其在结直肠癌中的临床应用

The Method of Minimal Residual Disease Detection With Circulating Tumor DNA and Its Clinical Applications in Colorectal Cancer.

作者信息

Liu Ming, Mu Tianhao, Gu Jia, Xu Mingyan, Chen Shifu

机构信息

HaploX Biotechnology, Shenzhen, China.

Faculty of Data Science, City University of Macau, Macau, China.

出版信息

Cancer Rep (Hoboken). 2025 Mar;8(3):e70167. doi: 10.1002/cnr2.70167.

DOI:10.1002/cnr2.70167
PMID:40033897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11876780/
Abstract

BACKGROUND

Colorectal cancer (CRC) remains a significant health concern in the world. The existing standard of care guidelines for CRC surveillance fall short of effectively and timely detecting recurrence or metastasis.

RECENT FINDINGS

In recent years, circulating tumor DNA (ctDNA) has emerged as a promising material for minimal residual disease (MRD) detection. In this article, we provide an exhaustive review of the methods utilized for MRD detection via ctDNA, present evidence supporting the potential of ctDNA MRD as a valuable biomarker in clinical applications, and engage in a discussion regarding ongoing ctDNA MRD-based clinical trials in CRC. Finally, we offer insights into future prospects of ctDNA-based MRD methodological advancements and clinical research.

CONCLUSION

It is foreseeable that more sensitive, flexible, and economical MRD detection methods will emerge with the deeper research on cell-free DNA (cfDNA) genomics, fragmentomics, methylomes, and nucleosome imprinting. At the same time, MRD-guided intervention studies will evolve for revolutionizing the treatment paradigm of CRC.

摘要

背景

结直肠癌(CRC)仍是全球重大的健康问题。现有的CRC监测护理标准指南在有效且及时地检测复发或转移方面存在不足。

最新发现

近年来,循环肿瘤DNA(ctDNA)已成为用于检测微小残留病(MRD)的一种有前景的材料。在本文中,我们对通过ctDNA进行MRD检测所使用的方法进行了详尽综述,展示了支持ctDNA MRD作为临床应用中有价值生物标志物潜力的证据,并对正在进行的基于ctDNA MRD的CRC临床试验展开了讨论。最后,我们对基于ctDNA的MRD方法学进展和临床研究的未来前景提出了见解。

结论

可以预见,随着对游离DNA(cfDNA)基因组学、片段组学、甲基化组和核小体印记的深入研究,将会出现更灵敏、灵活且经济的MRD检测方法。同时,MRD引导的干预研究将不断发展,以彻底改变CRC的治疗模式。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/11876780/e64e1d9bf3b9/CNR2-8-e70167-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/11876780/9f166ffc81e6/CNR2-8-e70167-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/11876780/e64e1d9bf3b9/CNR2-8-e70167-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/11876780/9f166ffc81e6/CNR2-8-e70167-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8a35/11876780/e64e1d9bf3b9/CNR2-8-e70167-g001.jpg

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本文引用的文献

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Colorectal Cancer Recurrence Prediction Using a Tissue-Free Epigenomic Minimal Residual Disease Assay.利用组织游离的表观基因组最小残留疾病检测进行结直肠癌复发预测。
Clin Cancer Res. 2024 Oct 1;30(19):4377-4387. doi: 10.1158/1078-0432.CCR-24-1651.
2
Plasma Assay of Cell-Free Methylated DNA Markers of Colorectal Cancer: A Tumor-Agnostic Approach to Monitor Recurrence and Response to Anticancer Therapies.血浆中结直肠癌无细胞甲基化DNA标志物的检测:一种监测复发及抗癌治疗反应的肿瘤非特异性方法
Cancers (Basel). 2023 Dec 9;15(24):5778. doi: 10.3390/cancers15245778.
3
Clinical application of circulating tumour DNA in colorectal cancer.
循环肿瘤 DNA 在结直肠癌中的临床应用。
Lancet Gastroenterol Hepatol. 2023 Sep;8(9):837-852. doi: 10.1016/S2468-1253(23)00146-2. Epub 2023 Jul 24.
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Genomic approaches to cancer and minimal residual disease detection using circulating tumor DNA.利用循环肿瘤 DNA 进行癌症和微小残留病灶检测的基因组方法。
J Immunother Cancer. 2023 Jun;11(6). doi: 10.1136/jitc-2022-006284.
5
Early Detection of Molecular Residual Disease and Risk Stratification for Stage I to III Colorectal Cancer via Circulating Tumor DNA Methylation.通过循环肿瘤 DNA 甲基化对 I 期至 III 期结直肠癌进行分子残留疾病的早期检测和风险分层。
JAMA Oncol. 2023 Jun 1;9(6):770-778. doi: 10.1001/jamaoncol.2023.0425.
6
Circulating tumour DNA in the evolving treatment landscape of locally advanced rectal cancer: where does it fit in?循环肿瘤DNA在局部晚期直肠癌不断演变的治疗格局中的作用:它处于什么位置?
Ther Adv Med Oncol. 2023 Mar 14;15:17588359231160138. doi: 10.1177/17588359231160138. eCollection 2023.
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Colorectal cancer statistics, 2023.2023 年结直肠癌统计数据。
CA Cancer J Clin. 2023 May-Jun;73(3):233-254. doi: 10.3322/caac.21772. Epub 2023 Mar 1.
8
Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer.结直肠癌患者的分子残留疾病与辅助化疗疗效。
Nat Med. 2023 Jan;29(1):127-134. doi: 10.1038/s41591-022-02115-4. Epub 2023 Jan 16.
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Global burden of colorectal cancer in 2020 and 2040: incidence and mortality estimates from GLOBOCAN.2020年和2040年全球结直肠癌负担:来自全球癌症负担(GLOBOCAN)的发病率和死亡率估计
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