Comparison of the Diagnostic Significance of Cerebrospinal fluid Metagenomic Next-generation Sequencing Copy Number Variation Analysis and Cytology in Leptomeningeal Malignancy

Abstract

Abstract Background The early diagnosis of leptomeningeal malignancy remains a formidable challenge in clinical practice. This study aimed to investigate the diagnostic potential of cerebrospinal fluid (CSF) metagenomic next-generation sequencing (mNGS) and chromosome copy number variations (CNVs) analysis in the detection of leptomeningeal malignancy. The diagnostic significance of mNGS-CNVs was compared with that of cytology. Methods A total of 51 patients were enrolled. 34 patients were diagnosed with central nervous system (CNS) leptomeningeal malignancy (tumor group), and 17 patients were diagnosed with CNS inflammatory diseases (nontumor group). We explored a well-designed approach utilizing the CSF mNGS-CNVs technique for the early diagnosis of leptomeningeal malignancy. The diagnostic performance of CSF cytology and mNGS-CNVs was evaluated. Results CSF cytology displayed a sensitivity of 82.35% (95% CI: 66.83%-92.61%) and a specificity of 94.12% (95% CI: 69.24%-99.69%). In comparison, CSF mNGS-CNVs exhibited a slightly lower sensitivity of 70.59% (95% CI: 52.33%-84.29%), but an impressive specificity of 100% (95% CI: 77.08%-100%). Notably, comparative analysis revealed no significant difference in diagnostic consistency between cytology and mNGS-CNVs. Conclusions Our study highlighted the advantage of CSF mNGS-CNVs as a diagnostic tool for leptomeningeal malignancy when compared to traditional cytology. This comprehensive approach provides a promising strategy for utilizing CSF mNGS in the detection of CNS tumors.