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Integrative CSF profiling identifies disease-specific immune responses in leptomeningeal disease

GSE286518 Homo sapiens Expression profiling by high throughput sequencing; Other 42 samples Submitted 2026/01/20 Platform GPL24676
Summary
Assessing anti-tumor immune responses and immune microenvironment alterations in central nervous system (CNS) neoplasms like brain tumors and leptomeningeal disease (LMD) provides prognostic insights and predictive biomarkers. Cerebrospinal fluid (CSF) liquid biopsy (LB) is a promising minimally-invasive approach, but its ability to reflect these processes remains unclear. We used single-cell RNA and T cell receptor (TCR) sequencing of CSF cells and spatial transcriptomics of CNS lesions in LMD patients with CNS lymphoma (CNSL), glioblastoma (GB), and brain metastases (BrM), compared to neuroinflammatory CNS disorders to unveil the immune complexity during the disease course. We identified disease-specific CSF environments reflecting parenchymal tumor microenvironment features. CNSL showed robust T cell responses, while BrM and GB were dominated by myeloid cells. Unique mechanisms of disease progression and resistance linked to CSF cell dynamics highlight the potential of scRNAseq-based CSF LB for uncovering disease biology, predicting biomarkers, and developing personalized therapies for CNS neoplasms.
Published in
Integrative CSF profiling identifies disease-specific immune responses in leptomeningeal disease
Nieto P, Klinsing S, Caratù G et al. · Cell reports. Medicine 2026 · PMID 41794040 · doi:10.1016/j.xcrm.2026.102651
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Direct links to NCBI, no account and no request form: the whole study as GSE286518_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 42 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1209859 and SRA study SRP556948. Searching any of these in the dataset finder brings you back here.

Study design
40 conditions, each sampled once — no replicated groups

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