脑胶质瘤多组学检测与标准化临床送样流程
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广东省重点领域研发计划(2023B1111020008)


Multi-omics testing and standardized clinical sample delivery process for glioma
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    摘要:

    脑胶质瘤约占全部恶性颅内肿瘤的80%,其侵袭性强、预后差,给临床诊疗带来了重大挑 战。传统影像与病理分级在应对其显著的肿瘤内外异质性时常显不足。多组学(基因组、转录组、蛋白 质组、代谢组等)为分型、风险分层及疗效/ 复发监测提供了整合视角,从而加速了新型疗法和精准医疗 策略向脑胶质瘤临床应用的转化。然而,样本前处理与批次效应、跨平台标准不一、数据融合与可解释 性不足以及如何将复杂结果嵌入临床路径等问题仍限制其落地。现围绕脑胶质瘤精准诊疗的实际场景, 总结多组学检测的关键价值与局限,强调规范化的样本提交、质控与报告流程,为多组学检测的临床应 用提供指导和建议。

    Abstract:

    Gliomas account for approximately 80% of all malignant intracranial tumors, with strong invasiveness and poor prognosis, posing significant challenges to clinical diagnosis and treatment. Traditional imaging and pathological grading often prove inadequate in addressing the significant intra- and intertumoral heterogeneity. Multi-omics( such as genomics, transcriptomics, proteomics, metabolomics) provide an integrated perspective for subtyping, risk stratification, and efficacy/recurrence monitoring, thereby accelerating the translation of novel therapies and precision medicine strategies into clinical applications for gliomas. However, challenges such as batch effects in sample preprocessing, inconsistent cross-platform standards, insufficient data integration and interpretability, and the integration of complex results into clinical pathways continue to hinder its implementation. This paper summarizes the key value and limitations of multi-omics testing in the practical context of precision diagnosis and treatment for gliomas, emphasizes standardized sample delivery, quality control, and reporting processes, providing guidance and recommendations for the clinical application of multi-omics testing.

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赵娜,崔晓腾,郭洪波,康春生,李捷.脑胶质瘤多组学检测与标准化临床送样流程[J].神经疾病与精神卫生,2025,25(11):761-
DOI :10.3969/j. issn.1009-6574.2025.11.001.

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  • 在线发布日期: 2025-11-21