脑脊液生物学标志物在中枢神经系统恶性肿瘤诊断中的研究进展

Research advances in biomarkers in diagnosis of cerebrospinal fluid in central nervous system malignant tumors

  • 摘要: 中枢神经系统恶性肿瘤具有早期诊断难、对传统治疗不敏感、易复发等特点,预后不佳。其诊断方法中的立体定向活检术在脑深部病变活检中仍存在较高风险,血液中的循环肿瘤细胞DNA检测诊断中枢神经系统恶性肿瘤的特异性和敏感度均较低。因此,需探索和发现临床样本,获取简易且风险性低、结果可靠的生物学标志物,应用于中枢神经系统肿瘤的早期诊断和病情监测。脑脊液中的循环生物学标志物,包括循环肿瘤DNA、微RNA以及代谢物,有望对中枢神经系统恶性肿瘤提供准确的评估。本文对上述脑脊液循环生物学标志物在中枢神经系统恶性肿瘤诊断中的研究进展和潜在临床应用作一综述。

     

    Abstract: Central nervous system (CNS) malignancies are difficult to diagnose in early stage, with the characteristics of insensitive to traditional therapy and easy to recur, resulting in poor prognosis. Early diagnosis and treatment response monitoring are challenging because of high risks of stereotactic biopsy in deep brain regions, and low specificity and sensitivity of the circulating tumor cell DNA (ctDNA) using peripheral blood. Therefore, there is an urgent need to develop and validate reliable and minimally invasive biomarkers for CNS malignant tumors that can be used in diagnosis and monitoring. Circulating biomarkers in cerebrospinal fluid, including ctDNA, microRNAs and metabolites, hold promise for accurate assessment of CNS tumors. This review summarizes the current studies of those CSF biomarkers and their potential implementation in CNS malignant tumors.

     

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