脑脊液液体活检在儿童髓母细胞瘤临床诊疗中的应用价值
The Utility of Cerebrospinal Fluid Liquid Biopsy in the Clinical Application for Pediatric Medulloblastoma
DOI: 10.12677/acm.2025.15123527, PDF,   
作者: 李 阳, 李禄生*：重庆医科大学附属儿童医院神经外科，重庆
关键词: 液体活检；脑脊液；儿童；髓母细胞瘤；循环肿瘤DNA；Liquid Biopsy； Cerebrospinal Fluid； Children； Medulloblastoma； Circulating Tumor DNA
摘要: 髓母细胞瘤(medulloblastoma, MB)是儿童时期常见的恶性中枢神经系统肿瘤之一。早期诊断、微小残留病灶监测、治疗反应评估及预后判断对于改善MB患儿临床结局至关重要。液体活检作为一项非侵入性检测技术，在肿瘤诊疗领域中存在显著优势。脑脊液中的循环肿瘤DNA (ctDNA)分析不仅能够揭示肿瘤的基因组特征，还可用于动态监测疾病进展，从而为MB患儿个体化治疗策略的制定提供依据。本文概述了液体活检技术及其在MB分子分型、微小残留病灶检测、复发预警、疗效评价和预后评估中的应用价值。
Abstract: Medulloblastoma (MB) is one of the most common malignant central nervous system tumors in children. Early diagnosis, minimal residual disease monitoring, assessment of treatment response, and prognosis evaluation are crucial for improving clinical outcomes in pediatric MB patients. Liquid biopsy, as a non-invasive detection technique, offers significant advantages in the field of tumor diagnosis and treatment. The analysis of circulating tumor DNA (ctDNA) in cerebrospinal fluid can not only reveal the genomic characteristics of the tumor but also be used for dynamic monitoring of disease progression, thereby providing a basis for the development of individualized treatment strategies for children with MB. This article outlines liquid biopsy technology and its application value in molecular subtyping, minimal residual disease detection, recurrence warning, efficacy evaluation, and prognosis assessment of MB.
文章引用：李阳, 李禄生. 脑脊液液体活检在儿童髓母细胞瘤临床诊疗中的应用价值[J]. 临床医学进展, 2025, 15(12): 1262-1269. https://doi.org/10.12677/acm.2025.15123527

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