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Purpose <p>Cerebrospinal fluid (CSF) cytology presents challenges in the diagnosis of leptomeningeal metastasis (LM) due to frequent false negatives. We re-evaluated the diagnostic accuracy of CSF cytology with reference to accompanying magnetic resonance imaging (MRI) findings and LM symptoms/signs, incorporating longitudinal follow-up data.</p> Methods <p>In total, 697 consecutive CSF samples obtained for LM diagnosis from 234 patients were analyzed. The final determination of LM was made using 3-month follow-up data, considering therapeutic interventions.</p> Results <p>Concordance among the three diagnostic factors—CSF cytology, MRI findings, and LM symptoms/signs—was observed in 70% of LM-positive cases and 53% of LM-negative cases. Clinical scenarios with longitudinal data were classified into 13 categories, with final diagnoses of true positive (<i>n</i> = 238, 34.1%), false positive (<i>n</i> = 30, 4.3%), true negative (<i>n</i> = 261, 37.4%), and false negative (<i>n</i> = 168, 24.1%). CSF cytology alone yielded an area under the curve (AUC) of 0.737; the combined three-factor model achieved an AUC of 0.981. Diagnostic evaluation of eight combinations derived from the dichotomized three factors showed that cases concordant for all three factors had a 100% positive predictive value (PPV) and 97.8% negative predictive value. Among discordant cases, LM symptoms/signs demonstrated the highest predictive value (PPV: 97.1% with negative cytology findings and 100% with negative MRI findings). MRI findings alone showed limited diagnostic value (PPV: 45.3%) when the other two factors were discordant.</p> Conclusion <p>The relatively high discordance among the three diagnostic factors highlights the need for a new combined diagnostic method for LM that incorporates therapeutic interventions and longitudinal follow-up data.</p>

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Re-evaluation of cerebrospinal fluid cytology for diagnosis of leptomeningeal metastasis based on radiological features, patient symptoms/signs, and clinical follow-up

  • 期刊论文

  • 发表日期：

    2026年1月3日

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  • Yun-Sik Dho,
  • Sang Hoon Shin,
  • Ho-Shin Gwak,
  • Heon Yoo,
  • Kyu Chang Wang

摘要

Purpose

Cerebrospinal fluid (CSF) cytology presents challenges in the diagnosis of leptomeningeal metastasis (LM) due to frequent false negatives. We re-evaluated the diagnostic accuracy of CSF cytology with reference to accompanying magnetic resonance imaging (MRI) findings and LM symptoms/signs, incorporating longitudinal follow-up data.

Methods

In total, 697 consecutive CSF samples obtained for LM diagnosis from 234 patients were analyzed. The final determination of LM was made using 3-month follow-up data, considering therapeutic interventions.

Results

Concordance among the three diagnostic factors—CSF cytology, MRI findings, and LM symptoms/signs—was observed in 70% of LM-positive cases and 53% of LM-negative cases. Clinical scenarios with longitudinal data were classified into 13 categories, with final diagnoses of true positive (n = 238, 34.1%), false positive (n = 30, 4.3%), true negative (n = 261, 37.4%), and false negative (n = 168, 24.1%). CSF cytology alone yielded an area under the curve (AUC) of 0.737; the combined three-factor model achieved an AUC of 0.981. Diagnostic evaluation of eight combinations derived from the dichotomized three factors showed that cases concordant for all three factors had a 100% positive predictive value (PPV) and 97.8% negative predictive value. Among discordant cases, LM symptoms/signs demonstrated the highest predictive value (PPV: 97.1% with negative cytology findings and 100% with negative MRI findings). MRI findings alone showed limited diagnostic value (PPV: 45.3%) when the other two factors were discordant.

Conclusion

The relatively high discordance among the three diagnostic factors highlights the need for a new combined diagnostic method for LM that incorporates therapeutic interventions and longitudinal follow-up data.