Multi-Omic Characterization of Single Cells and Cell-Free Components Detected in the Cerebrospinal Fluid of Patients with Leptomeningeal Disease

软脑膜疾病患者脑脊液中检测到的单细胞和无细胞成分的多组学表征

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作者:Stephanie N Shishido, Amelia Marvit, Doanna Pham, Theresa Luo, Liya Xu, Jeremy Mason, Saul J Priceman, Jana Portnow, Peter Kuhn1

Conclusions

The data presented suggest that CSF could be a useful tool for diagnosing and assessing disease severity.

Methods

The detection of cellular analytes with the non-enrichment high-definition single-cell assay (HDSCA3.0) workflow was compared between the CSF and matched peripheral blood (PB) samples.

Results

Circulating tumor cells (CTCs) were detected in the CSF but not the PB and were subsequently molecularly characterized using single-cell genomics and targeted multiplexed proteomics to reveal a clonal population of phenotypically heterogeneous cells. There was a lack of concordance in the copy number alteration profiles between CTCs and cell-free DNA (cfDNA) in the CSF. Extracellular vesicle surface marker analysis in CSF revealed a prominent signal among tetraspanins (CD9/CD63/CD81), with CD81 exhibiting the highest signal across all patients. Conclusions: The data presented suggest that CSF could be a useful tool for diagnosing and assessing disease severity.

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