Background: The gold standard for diagnosing primary central nervous system lymphoma (PCNSL) is brain biopsy, an invasive procedure with significant risks. The role of cerebrospinal fluid (CSF) examination, limited to cytology and flow cytometry in current practice, is acknowledged as a less invasive diagnostic method. We aimed to summarize available data concerning the efficacy and actual use of current standard CSF diagnostics in the diagnosis of PCNSL. Methods: A systematic review and meta-analysis of 144 studies (n = 9493 patients) was conducted, assessing detection rates of cytology and flow cytometry and the proportion of diagnoses based on CSF analysis. The QUADAS-2 tool was used to evaluate study quality and bias. Results: Meta-analysis showed an 18% pooled detection rate for positive CSF results, with 17% for cytology and 20% for flow cytometry. Only 8% of diagnoses were made using CSF analysis. Most studies had a high risk of bias. Conclusions: Despite its established role in guidelines, CSF analysis remains underutilized for diagnosing PCNSL, with room to improve its clinical impact. Novel techniques, such as chemokines and circulating tumor DNA (cfDNA) analysis, hold promise to unlock the untapped potential of CSF diagnostics, offering significant advancements in non-invasive PCNSL diagnosis.
背景：原发性中枢神经系统淋巴瘤（PCNSL）的诊断金标准为脑组织活检，但该侵入性操作风险较高。脑脊液检查作为创伤性较小的诊断方法，目前临床实践中主要局限于细胞学与流式细胞术检测。本研究旨在系统总结当前标准脑脊液检测在PCNSL诊断中的效能与实际应用情况。方法：通过对144项研究（共9493例患者）进行系统综述与荟萃分析，评估细胞学与流式细胞术的检出率以及基于脑脊液分析确诊的比例，并采用QUADAS-2工具评价研究质量及偏倚风险。结果：荟萃分析显示脑脊液阳性结果的汇总检出率为18%，其中细胞学检出率为17%，流式细胞术为20%。仅8%的病例通过脑脊液分析确诊。多数研究存在较高的偏倚风险。结论：尽管指南已确立脑脊液分析的地位，其在PCNSL诊断中仍未得到充分利用，临床价值有待提升。趋化因子检测、循环肿瘤DNA分析等新兴技术有望释放脑脊液诊断的潜在价值，为PCNSL的无创诊断带来重要突破。
肿瘤(癌症)患者之家