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微小残留病检测:对临床诊断和癌症患者治疗的意义

Minimal Residual Disease Detection: Implications for Clinical Diagnosis and Cancer Patient Treatment.

作者信息

Song Meiling, Pan Wenjing, Yu Xinjie, Ren Jie, Tang Congli, Chen Zhu, Wang Zhe, Deng Yan, He Nongyue, Liu Hongna, Li Song

机构信息

Hunan Key Laboratory of Biomedical Nanomaterials and Devices Hunan University of Technology Zhuzhou China.

Department of Cell Biology and Genetics School of Basic Medical Sciences Hengyang Medical School University of South China Hengyang China.

出版信息

MedComm (2020). 2025 May 15;6(6):e70193. doi: 10.1002/mco2.70193. eCollection 2025 Jun.

DOI:10.1002/mco2.70193
PMID:40384986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12079024/
Abstract

Minimal residual disease (MRD) serves as a pivotal biomarker for the clinical diagnosis and subsequent treatment of cancer patients. In hematological malignancies, MRD pose an increasingly serious threat to the health of Chinese people. Accurate MRD detection is essential for assessing relapse risk and optimizing therapeutic strategies, yet current methods such as flow cytometry, polymerase chain reaction (PCR), and next-generation sequencing (NGS) each have distinct limitations, and significant gaps remain in achieving optimal sensitivity and specificity of these technologies. This review provides a comprehensive analysis of MRD detection methods, high-lighting their clinical implications, including their roles in treatment decision-making, risk stratification, and patient outcomes. It discusses the strengths and weaknesses of existing techniques and explores emerging technologies that promise enhanced diagnostic precision. Key advancements such as integrating NGS with other methodologies and novel approaches like liquid biopsy and PCR are examined. The review underscores the academic and practical value of early and accurate MRD detection, emphasizing its impact on improving patient management and treatment outcomes. By addressing the limitations of current technologies and exploring future directions, this review aims to advance the field and support personalized medicine approaches to cancer treatment.

摘要

微小残留病(MRD)是癌症患者临床诊断及后续治疗的关键生物标志物。在血液系统恶性肿瘤中,MRD对中国人民的健康构成了日益严重的威胁。准确检测MRD对于评估复发风险和优化治疗策略至关重要,然而目前诸如流式细胞术、聚合酶链反应(PCR)和下一代测序(NGS)等方法均有各自的局限性,在实现这些技术的最佳敏感性和特异性方面仍存在显著差距。本综述对MRD检测方法进行了全面分析,突出了它们的临床意义,包括在治疗决策、风险分层和患者预后方面的作用。它讨论了现有技术的优缺点,并探索了有望提高诊断精度的新兴技术。研究了将NGS与其他方法相结合等关键进展以及液体活检和PCR等新方法。该综述强调了早期和准确检测MRD的学术和实用价值,强调了其对改善患者管理和治疗结果的影响。通过解决当前技术的局限性并探索未来方向,本综述旨在推动该领域发展并支持癌症治疗的个性化医疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/7d89551625fe/MCO2-6-e70193-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/2a6643ffb6af/MCO2-6-e70193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/6b203df40315/MCO2-6-e70193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/85c7b755e87c/MCO2-6-e70193-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/1acf2b1a5d70/MCO2-6-e70193-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/7d89551625fe/MCO2-6-e70193-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/2a6643ffb6af/MCO2-6-e70193-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/6b203df40315/MCO2-6-e70193-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/85c7b755e87c/MCO2-6-e70193-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/1acf2b1a5d70/MCO2-6-e70193-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/82fa/12079024/7d89551625fe/MCO2-6-e70193-g006.jpg

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本文引用的文献

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Measurable Residual Disease Detection in Acute Myeloid Leukemia: Current Challenges and Future Directions.急性髓系白血病中可测量残留病的检测:当前挑战与未来方向
Biomedicines. 2024 Mar 7;12(3):599. doi: 10.3390/biomedicines12030599.
2
Understanding differential technologies for detection of MRD and how to incorporate into clinical practice.了解 MRD 检测的差异化技术以及如何将其纳入临床实践。
Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):682-690. doi: 10.1182/hematology.2023000454.
3
Challenges facing minimal residual disease testing for acute myeloid leukemia and promising strategies to overcome them.
急性髓系白血病微小残留病检测面临的挑战及克服这些挑战的有前途的策略。
Expert Rev Hematol. 2023 Jul-Dec;16(12):981-990. doi: 10.1080/17474086.2023.2285985. Epub 2023 Dec 18.
4
Detection of NPM1 Mutations in Acute Myeloid Leukemia by using Drop-Off Droplet Digital PCR and its Clinical Application.应用降落式数字 PCR 检测急性髓系白血病 NPM1 基因突变及其临床应用。
Clin Lab. 2023 Nov 1;69(11). doi: 10.7754/Clin.Lab.2023.230537.
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Single-cell genotypic and phenotypic analysis of measurable residual disease in acute myeloid leukemia.急性髓系白血病微量残留病的单细胞基因表型分析。
Sci Adv. 2023 Sep 22;9(38):eadg0488. doi: 10.1126/sciadv.adg0488. Epub 2023 Sep 20.
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Measurable residual disease monitoring in patients with acute myeloid leukemia treated with lower-intensity therapy: Roadmap from an ELN-DAVID expert panel.采用低强度治疗的急性髓系白血病患者的可测量残留病监测:ELN-DAVID 专家小组的路线图。
Am J Hematol. 2023 Dec;98(12):1847-1855. doi: 10.1002/ajh.27087. Epub 2023 Sep 6.
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Novel Tools for Diagnosis and Monitoring of AML.新型 AML 诊断和监测工具。
Curr Oncol. 2023 May 23;30(6):5201-5213. doi: 10.3390/curroncol30060395.
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Role of Measurable Residual Disease in Older Adult Acute Myeloid Leukemia.老年急性髓系白血病中可测量残留病的作用。
Clin Interv Aging. 2023 Jun 7;18:921-931. doi: 10.2147/CIA.S409308. eCollection 2023.
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Advances in minimal residual disease monitoring in multiple myeloma.多发性骨髓瘤微小残留病监测的进展
Crit Rev Clin Lab Sci. 2023 Nov;60(7):518-534. doi: 10.1080/10408363.2023.2209652. Epub 2023 May 26.
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Next-generation sequencing-based MRD in adults with ALL undergoing hematopoietic cell transplantation.基于下一代测序的急性淋巴细胞白血病成人患者造血细胞移植后微小残留病灶监测。
Blood Adv. 2023 Jul 25;7(14):3395-3402. doi: 10.1182/bloodadvances.2023009856.