Advances in Clinical Application of Cerebrospinal Fluid Circulating Tumor DNA in Leptomeningeal Metastasis of Non-small Cell Lung Cancer

TL;DR

This paper reviews how cerebrospinal fluid ctDNA can help diagnose and treat leptomeningeal metastasis in non-small cell lung cancer.

Contribution

It highlights the clinical potential of CSF ctDNA for improving diagnosis and monitoring in NSCLC-LM.

Findings

CSF ctDNA reflects the genetic features of leptomeningeal metastasis.

CSF ctDNA analysis aids in diagnosis, treatment response, and resistance mechanism studies.

Current techniques for detecting CSF ctDNA are reviewed for NSCLC-LM patients.

Abstract

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。