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Abstract：
Leptomeningeal metastasis (LM) is a lethal complication of malignant tumors, with an incidence rate of 3%-5% among patients with non-small cell lung cancer (NSCLC). LM poses significant challenges in diagnosis, has poor prognosis, limited treatment options, and lacks standardized criteria for evaluating therapeutic efficacy, making it a difficult aspect of NSCLC management. Circulating tumor DNA (ctDNA), shed from tumor cells and carrying cancer-related information, holds significant value in precision oncology. Cerebrospinal fluid (CSF), present in the subarachnoid space of the brain, the spinal cord, and the central canal, and in direct contact with meningeal tissues, serves as the fluid medium that best reflects the genetic characteristics of LM. In recent years, CSF ctDNA has become a focal point due to its multi-omics features, playing a crucial role in the management of central nervous system (CNS) metastatic tumors. Its applications span the entire continuum of care, including aiding in diagnosis, assessing treatment response, predicting prognosis, and analyzing resistance mechanisms. This article provides a concise overview of CSF ctDNA detection techniques and their clinical applications in patients with NSCLC-LM.
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【中文题目：脑脊液循环肿瘤DNA在非小细胞肺癌 柔脑膜转移中的临床应用进展】 【中文摘要：柔脑膜转移（leptomeningeal metastasis, LM）是恶性肿瘤的一种致死性并发症，其在非小细胞肺癌（non-small cell lung cancer, NSCLC）患者中的发生率为3%-5%。LM诊断难、预后差、治疗手段有限且无统一的疗效评价标准，是NSCLC诊疗的难点。循环肿瘤DNA（circulating tumor DNA, ctDNA）由肿瘤细胞脱落，携带与癌症相关的信息，在肿瘤精准治疗中有重要应用价值。脑脊液（cerebrospinal fluid, CSF）存在于大脑蛛网膜下腔、脊髓和中央管，与脑膜组织直接接触，是最能反映LM遗传特征的液体介质。近年来，解析CSF ctDNA多组学特征对深入探索中枢神经系统（central nervous system, CNS）转移瘤的辅助诊断、疗效判断、预后预测及耐药机制分析等具有重大意义。本文将对CSF ctDNA检测技术及其在NSCLC-LM患者中的临床应用进行简要综述。 】 【中文关键词：肺肿瘤；柔脑膜转移；脑脊液；循环肿瘤DNA】.
【中文题目：脑脊液循环肿瘤DNA在非小细胞肺癌 柔脑膜转移中的临床应用进展】 【中文摘要：柔脑膜转移（leptomeningeal metastasis, LM）是恶性肿瘤的一种致死性并发症，其在非小细胞肺癌（non-small cell lung cancer, NSCLC）患者中的发生率为3%-5%。LM诊断难、预后差、治疗手段有限且无统一的疗效评价标准，是NSCLC诊疗的难点。循环肿瘤DNA（circulating tumor DNA, ctDNA）由肿瘤细胞脱落，携带与癌症相关的信息，在肿瘤精准治疗中有重要应用价值。脑脊液（cerebrospinal fluid, CSF）存在于大脑蛛网膜下腔、脊髓和中央管，与脑膜组织直接接触，是最能反映LM遗传特征的液体介质。近年来，解析CSF ctDNA多组学特征对深入探索中枢神经系统（central nervous system, CNS）转移瘤的辅助诊断、疗效判断、预后预测及耐药机制分析等具有重大意义。本文将对CSF ctDNA检测技术及其在NSCLC-LM患者中的临床应用进行简要综述。 】 【中文关键词：肺肿瘤；柔脑膜转移；脑脊液；循环肿瘤DNA】.
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