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Longitudinal CSF Tumor Cell Enumeration and Mutational Analysis as a Driver for Leptomeningeal Disease Management

  • 0Department of Neurosurgery, University of Michigan, Ann Arbor, MI 48109, USA.
Cancers +

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March 13, 2025

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March 13, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Cerebrospinal fluid tumor cells (CSF-TCs) detected by the CNSide platform offer a sensitive method for diagnosing and monitoring leptomeningeal disease (LMD). This approach identifies actionable biomarkers that change over time, enabling personalized treatment strategies.

Area Of Science

  • Neuro-oncology
  • Molecular Diagnostics
  • Cancer Biomarkers

Background

  • Leptomeningeal disease (LMD) diagnosis and monitoring are challenging due to the low sensitivity of current methods.
  • Cerebrospinal fluid tumor cells (CSF-TCs) are being investigated as biomarkers, but their heterogeneity poses challenges.
  • The CNSide platform combines CSF-TC enumeration with oncogene analysis (ICC, FISH, NGS) for improved LMD management.

Purpose Of The Study

  • To evaluate the utility of the CNSide platform for diagnosing and monitoring LMD.
  • To assess the diagnostic and monitoring capabilities of combined CSF-TC enumeration and mutational analysis.
  • To report on the largest cohort to date of LMD patients evaluated using CSF-TCs.

Main Methods

  • A multicenter, retrospective analysis of 613 commercially ordered assays from 218 patients with suspected or confirmed LMD (January 2020 - July 2023).
  • Utilized the CNSide platform for CSF-TC enumeration and oncogene expression analysis via ICC, FISH, and NGS.
  • Included longitudinal CSF draws for a subset of patients to assess biomarker changes over time.

Main Results

  • CSF-TCs were detected in 67% of samples.
  • Commonly analyzed cancers included breast (n=105) and lung (n=65).
  • Actionable markers like ALK, c-MET, HER2, and ER were detected. Longitudinal analysis revealed biomarker fluctuations in 30% of patients, with 58 oncogene detection 'flips' observed.

Conclusions

  • Longitudinal CSF testing using the CNSide platform shows variable CSF-TC counts potentially correlating with clinical course.
  • This platform identifies actionable tumor markers that frequently fluctuate, supporting personalized LMD treatment.
  • The combined approach enables timely, personalized chemotherapy for LMD patients.

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