J Clin Neurol.  2020 Oct;16(4):581-585. 10.3988/jcn.2020.16.4.581.

High Cell-Free DNA Levels in Cerebrospinal Fluid Predict Leptomeningeal Seeding of Hematologic Malignancy

• Kim EY
• Lee ST
• Kim YS
• Byun JM
• Hong J
• Shin DY
• Koh Y
• Kim I

• KMID: 2506781
• DOI: http://doi.org/10.3988/jcn.2020.16.4.581

Abstract

Background and Purpose
The main difficulty when diagnosing leptomeningeal metastases (LMSs) is the low sensitivity of cytology. Cancer cells release cell-free DNA (cfDNA) during proliferation and apoptosis, and so we analyzed the cfDNA level as a biomarker for LMSs in hematologic malignancy.
Methods
This study prospectively enrolled 20 patients with hematologic malignancy who underwent cerebrospinal fluid (CSF) analysis. LMS was diagnosed based on both CSF cytology and clinical findings.
Results
The CSF level of cfDNA was higher in patients with LMSs (108.17±84.84 ng/mL, mean±standard deviation) than in non-LMS patients (14.23±2.78 ng/mL). The sensitivity of cfDNA was higher than that of cytology (100% vs. 87%).
Conclusions
The cfDNA level in the CSF can be used as a supplemental marker for diagnosing LMS in hematologic malignancy patients.

Keyword

leptomeningeal metastases; hematologic malignancy; cell-free DNA