Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods

Abstract Background Brain metastasis is a common and serious complication in patients with non-small cell lung cancer (NSCLC), often associated with poor prognosis. While traditional diagnostic approaches such as magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) cytology are commonly us...

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Main Authors: Oluwatobi O. Olayode, Blessing T. Ogunoye, Emmanuel Olusola Oladeji, Oluwafemi E. Olayinka, Tolulope J. Oladosu
Format: Article
Language:English
Published: BMC 2025-07-01
Series:BMC Cancer
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Online Access:https://doi.org/10.1186/s12885-025-14583-1
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author Oluwatobi O. Olayode
Blessing T. Ogunoye
Emmanuel Olusola Oladeji
Oluwafemi E. Olayinka
Tolulope J. Oladosu
author_facet Oluwatobi O. Olayode
Blessing T. Ogunoye
Emmanuel Olusola Oladeji
Oluwafemi E. Olayinka
Tolulope J. Oladosu
author_sort Oluwatobi O. Olayode
collection DOAJ
description Abstract Background Brain metastasis is a common and serious complication in patients with non-small cell lung cancer (NSCLC), often associated with poor prognosis. While traditional diagnostic approaches such as magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) cytology are commonly used for detection, these methods have notable limitations. Circulating tumor DNA (ctDNA) in CSF has been reported as a superior alternative. This study evaluates the diagnostic test accuracy of CSF ctDNA for CNS metastases detection in patients with NSCLC, in comparison to CSF cytology, while also examining its potential prognostic value. Methods A systematic search was conducted to identify studies that reported CSF ctDNA detection in NSCLC patients with brain or leptomeningeal metastases. Pooled detection rates, sensitivity, specificity, and diagnostic odds ratios were meta-analyzed. Heterogeneity and publication bias were assessed using standard statistical methods. Subgroup and sensitivity analysis were applied to identify and address source of high heterogeneity. Results Twenty-six studies were included. The pooled detection rate of CSF ctDNA (86%, 95% CI: 0.79–0.91) was significantly higher than CSF cytology (60%, 95% CI: 36% % 81%). Diagnostic test accuracy analysis for CSF ctDNA showed high pooled sensitivity (91.8%, 95% CI: 74.2%–97.8%), specificity (93.5%, 95% CI: 76.7% – 98.5%) and diagnostic odds ratio (DOR) (93.51%, 95% CI: 13.85–631.44). Additionally, CSF ctDNA detected clinically relevant mutations that correlated with poorer overall survival, highlighting its prognostic potential. Conclusion CSF ctDNA demonstrates superior diagnostic accuracy for detecting CNS metastases in NSCLC compared to CSF cytology. Its molecular insights may support earlier detection and inform personalized treatment strategies. However, further validation in clinical settings is required.
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spelling doaj-art-ee5b7783a606409fb730e1cd0bb604f32025-08-20T03:05:13ZengBMCBMC Cancer1471-24072025-07-0125112210.1186/s12885-025-14583-1Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methodsOluwatobi O. Olayode0Blessing T. Ogunoye1Emmanuel Olusola Oladeji2Oluwafemi E. Olayinka3Tolulope J. Oladosu4Department of Surgery, Obafemi Awolowo UniversityDepartment of Surgery, Obafemi Awolowo UniversitySurgery Interest Group of AfricaDepartment of Surgery, Obafemi Awolowo UniversityDepartment of Surgery, Obafemi Awolowo UniversityAbstract Background Brain metastasis is a common and serious complication in patients with non-small cell lung cancer (NSCLC), often associated with poor prognosis. While traditional diagnostic approaches such as magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) cytology are commonly used for detection, these methods have notable limitations. Circulating tumor DNA (ctDNA) in CSF has been reported as a superior alternative. This study evaluates the diagnostic test accuracy of CSF ctDNA for CNS metastases detection in patients with NSCLC, in comparison to CSF cytology, while also examining its potential prognostic value. Methods A systematic search was conducted to identify studies that reported CSF ctDNA detection in NSCLC patients with brain or leptomeningeal metastases. Pooled detection rates, sensitivity, specificity, and diagnostic odds ratios were meta-analyzed. Heterogeneity and publication bias were assessed using standard statistical methods. Subgroup and sensitivity analysis were applied to identify and address source of high heterogeneity. Results Twenty-six studies were included. The pooled detection rate of CSF ctDNA (86%, 95% CI: 0.79–0.91) was significantly higher than CSF cytology (60%, 95% CI: 36% % 81%). Diagnostic test accuracy analysis for CSF ctDNA showed high pooled sensitivity (91.8%, 95% CI: 74.2%–97.8%), specificity (93.5%, 95% CI: 76.7% – 98.5%) and diagnostic odds ratio (DOR) (93.51%, 95% CI: 13.85–631.44). Additionally, CSF ctDNA detected clinically relevant mutations that correlated with poorer overall survival, highlighting its prognostic potential. Conclusion CSF ctDNA demonstrates superior diagnostic accuracy for detecting CNS metastases in NSCLC compared to CSF cytology. Its molecular insights may support earlier detection and inform personalized treatment strategies. However, further validation in clinical settings is required.https://doi.org/10.1186/s12885-025-14583-1CSF ctDNABrain metastasesNSCLCLiquid biopsyDiagnostic accuracyBiomarker
spellingShingle Oluwatobi O. Olayode
Blessing T. Ogunoye
Emmanuel Olusola Oladeji
Oluwafemi E. Olayinka
Tolulope J. Oladosu
Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
BMC Cancer
CSF ctDNA
Brain metastases
NSCLC
Liquid biopsy
Diagnostic accuracy
Biomarker
title Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
title_full Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
title_fullStr Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
title_full_unstemmed Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
title_short Cerebrospinal fluid Circulating Tumor DNA (ctDNA) as a biomarker for CNS metastases in Non-Small Cell Lung Cancer (NSCLC): a systematic review and meta-analysis comparing CSF ctDNA and traditional methods
title_sort cerebrospinal fluid circulating tumor dna ctdna as a biomarker for cns metastases in non small cell lung cancer nsclc a systematic review and meta analysis comparing csf ctdna and traditional methods
topic CSF ctDNA
Brain metastases
NSCLC
Liquid biopsy
Diagnostic accuracy
Biomarker
url https://doi.org/10.1186/s12885-025-14583-1
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