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用于监测髓母细胞瘤的液体活检:循环肿瘤DNA作为疾病进展和治疗反应的生物标志物

Liquid Biopsies for Monitoring Medulloblastoma: Circulating Tumor DNA as a Biomarker for Disease Progression and Treatment Response.

作者信息

Buccilli Barbara, Rodriguez Molina Maria A, Redrovan Palomeque Daniela P, Herrera Sabán Cindy A, C Caliwag Fides M, Contreras Flores Cristian Jenifer S, Abeysiriwardana Chamathi W J, Diarte Edna, Arruarana Victor S, Calderon Martinez Ernesto

机构信息

Department of Human Neuroscience, Sapienza University of Rome, Rome, ITA.

Department of Neurosurgery, Mount Sinai Hospital, New York, USA.

出版信息

Cureus. 2024 Jan 5;16(1):e51712. doi: 10.7759/cureus.51712. eCollection 2024 Jan.

Abstract

Pediatric brain tumors, including medulloblastoma (MB), represent a significant challenge in clinical oncology. Early diagnosis, accurate monitoring of therapeutic response, and the detection of minimal residual disease (MRD) are crucial for improving outcomes in these patients. This review aims to explore recent advancements in liquid biopsy techniques for monitoring pediatric brain tumors, with a specific focus on medulloblastoma. The primary research question is how liquid biopsy techniques can be effectively utilized for these purposes. Liquid biopsies, particularly the analysis of circulating tumor DNA (ctDNA) in cerebrospinal fluid (CSF), are investigated as promising noninvasive tools. This comprehensive review examines the components of liquid biopsies, including ctDNA, cell-free DNA (cfDNA), and microRNA (miRNA). Their applications in diagnosis, prognosis, and MRD assessment are critically assessed. The review also discusses the role of liquid biopsies in categorizing medulloblastoma subgroups, risk stratification, and the identification of therapeutic targets. Liquid biopsies have shown promising applications in the pediatric brain tumor field, particularly in medulloblastoma. They offer noninvasive means of diagnosis, monitoring treatment response, and detecting MRD. These biopsies have played a pivotal role in subgroup classification and risk stratification of medulloblastoma patients, aiding in the identification of therapeutic targets. However, challenges related to sensitivity and specificity are noted. In conclusion, this review highlights the growing importance of liquid biopsies, specifically ctDNA analysis in CSF, in pediatric brain tumor management, with a primary focus on medulloblastoma. Liquid biopsies have the potential to revolutionize patient care by enabling early diagnosis, accurate monitoring, and MRD detection. Nevertheless, further research is essential to validate their clinical utility fully. The evolving landscape of liquid biopsy applications underscores their promise in improving outcomes for pediatric brain tumor patients.

摘要

小儿脑肿瘤,包括髓母细胞瘤(MB),是临床肿瘤学面临的重大挑战。早期诊断、准确监测治疗反应以及检测微小残留病(MRD)对于改善这些患者的治疗结果至关重要。本综述旨在探讨用于监测小儿脑肿瘤的液体活检技术的最新进展,特别关注髓母细胞瘤。主要研究问题是如何有效地利用液体活检技术实现这些目的。液体活检,尤其是对脑脊液(CSF)中循环肿瘤DNA(ctDNA)的分析,被作为有前景的非侵入性工具进行研究。本全面综述考察了液体活检的组成部分,包括ctDNA、游离DNA(cfDNA)和微小RNA(miRNA)。对它们在诊断、预后和MRD评估中的应用进行了批判性评估。综述还讨论了液体活检在髓母细胞瘤亚组分类、风险分层以及治疗靶点识别中的作用。液体活检在小儿脑肿瘤领域,尤其是髓母细胞瘤中,已显示出有前景的应用。它们提供了非侵入性的诊断手段、监测治疗反应以及检测MRD。这些活检在髓母细胞瘤患者的亚组分类和风险分层中发挥了关键作用,有助于识别治疗靶点。然而,也指出了与敏感性和特异性相关的挑战。总之,本综述强调了液体活检,特别是CSF中ctDNA分析,在小儿脑肿瘤管理中的重要性日益增加,主要关注髓母细胞瘤。液体活检有潜力通过实现早期诊断、准确监测和MRD检测来彻底改变患者护理。尽管如此,进一步的研究对于充分验证其临床实用性至关重要。液体活检应用的不断发展凸显了它们在改善小儿脑肿瘤患者治疗结果方面的前景。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f852/10838584/2f82ba92d873/cureus-0016-00000051712-i01.jpg

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