Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature Article Swipe

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Sakshi Khurana , Qian Nie , Kala F. Schilter , Honey V. Reddi · YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.21203/rs.3.rs-6347794/v1

Purpose: Meta-analysis of literature was performed to gain an understanding of the performance of genomic profiling assays in cerebrospinal fluid (CSF) for the diagnosis and management of CNS cancers. Methods: Using PRISMA methodology, PubMed was searched with the following search terms; “CSF and liquid biopsy” and “cerebrospinal fluid, liquid biopsy, mutations.” Key data fields such as DNA input, technologies used, biomarkers evaluated, types of CNS tumors, sensitivity and specificity, and performance outcomes were analyzed. Studies were excluded if they did not evaluate cancer, use CSF or molecular test methods, had Results: A total of 63 studies were included in the analysis with a majority using ctDNA (n=38) and targeted NGS panels (n=45) with both sensitivity and specificity being reported in 24 studies. Of the samples sequenced, 76% of the primary cancers were gliomas with lung cancer making up 67% of the metastatic cancers. The Belay Summit™ test performed significantly better in both primary and metastatic CNS cancers with 88% and 95% sensitivity respectively compared to studies that used NGS with 6 of the 24 demonstrating a median sensitivity of 47±1.95% for primary and 7 of 24 demonstrating a median sensitivity of 71±0.76% for metastatic cancers. Conclusions: CSF does have potential to inform treatment and management of CNS tumors. For a CSF based molecular test to be highly sensitive and specific, key considerations include panel content, methodology used, the type of variants being evaluated and the inclusion of true negative controls.

Type

preprint

Language

en

Landing Page

https://doi.org/10.21203/rs.3.rs-6347794/v1

OA Status

gold

References

83

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10

OpenAlex ID

https://openalex.org/W4409142419

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https://openalex.org/W4409142419

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DOI

https://doi.org/10.21203/rs.3.rs-6347794/v1

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Title

Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature

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Type

preprint

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Language

en

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Publication year

2025

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Publication date

2025-04-03

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Authors

Sakshi Khurana, Qian Nie, Kala F. Schilter, Honey V. Reddi

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https://doi.org/10.21203/rs.3.rs-6347794/v1

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Open access

Yes

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OA status

gold

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OA URL

https://doi.org/10.21203/rs.3.rs-6347794/v1

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Concepts

Meta-analysis, Cerebrospinal fluid, Profiling (computer programming), Central nervous system, Medicine, Computational biology, Bioinformatics, Pathology, Computer science, Internal medicine, Biology, Operating system

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0

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References (count)

83

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Related works (count)

10

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