摘要： 目的 初步探讨脑脊液循环肿瘤细胞检测技术在非小细胞肺癌脑膜转移诊断中的应用价值。方法 共5 例经脑脊液细胞学确诊的非小细胞肺癌脑膜转移患者，腰椎穿刺采集脑脊液后分别行肿瘤标志物免疫荧光染色-染色体荧光原位杂交（TM-iFISH）、脑脊液细胞学和肿瘤标志物检测。结果 TM-iFISH 检测显示脑脊液循环肿瘤细胞数目为18 ~ 1823 个/7.50 ml，而脑脊液细胞学检查仅2 例发现肿瘤细胞，肿瘤标志物检测5 例均高于血清正常值范围。MRI 增强扫描可见脑膜转移癌之典型征象。结论 TM-iFISH 技术用于检测脑脊液中恶性肿瘤细胞较传统方法具有一定优势，可能成为一种新的脑脊液肿瘤细胞检测方法，但其敏感性和特异性尚待扩大样本量进一步证实。

关键词: 肿瘤循环细胞, 脑脊髓液, 癌, 非小细胞肺, 肿瘤转移, 脑膜肿瘤, 原位杂交, 荧光

Abstract: Objective  To observe a new technology for the detection and enumeration of cerebrospinal fluid (CSF) circulating tumor cells (CTCs) in the diagnosis of non-small cell lung cancer (NSCLC) with meningeal metastasis (MM).  Methods  Five cases of NSCLC with MM that were diagnosed by CSF cytology were selected, and 20 ml CSF samples were obtained by lumbar puncture for every patient. The tumor marker immunostaining-fluorescence in situ hybridization (TM-iFISH) technology was adapted to detect enrichment and enumeration of circulating tumor cells in 7.50 ml CSF samples; CSF cytology was checked in 10 ml CSF samples; CSF tumor markers were detected in 2.50 ml CSF samples. All of 5 cases were examined by MRI enhancement scan.  Results  TM-iFISH detection found circulating tumor cells numbers ranging 18-1823/7.50 ml. Only 2 cases of patients with CSF cytology examination showed the tumor cells. The results of CSF tumor markers in all samples were higher than normal serum tumor markers detection results. The enhanced MRI scan of 5 cases revealed typical signs of MM.  Conclusions  The TM-iFISH test showed certain advantages in the detection of malignant tumor cells in CSF. This technology may be a new method of detection and enumeration of tumor cells in CSF, but more studies are needed to prove its sensitivity and specificity.

Key words: Neoplasm circulating cells, Cerebrospinal fluid, Carcinoma, non-small-cell lung, Neoplasm metastasis, Meningeal neoplasms, In situ hybridization, fluorescence