ArticleBMC neurology2019
Evaluating the cerebrospinal fluid ctDNA detection by next-generation sequencing in the diagnosis of meningeal Carcinomatosis.
Article in BMC neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 3 of them syntheses that pooled it.
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Who cites it
36 citing papers in PubMed, 3 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Association of Circulating Tumor DNA With Brain Metastases: A Systematic Review and Meta-Analysis.CNS neuroscience & therapeutics · 2026Pooled it
- Pooled it
- A systematic review of craniospinal irradiation for leptomeningeal disease: past, present, and future.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2021Pooled it
- Detection of actionable mutations in the cerebrospinal fluid and concordance/discordance with extracranial mutations in patients with metastatic breast cancer and leptomeningeal disease.Therapeutic advances in medical oncology · 2026Article
- Maternal and fetal outcomes in pregnant women with PRES and HELLP syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors - a meta analysis of the literature.The journal of liquid biopsy · 2025Review
- Cerebral spinal fluid analyses and therapeutic implications for leptomeningeal metastatic disease.Journal of neuro-oncology · 2025Review
- Longitudinal CSF Tumor Cell Enumeration and Mutational Analysis as a Driver for Leptomeningeal Disease Management.Cancers · 2025Article
- Intrathecal pemetrexed chemotherapy combined with systemic therapy in patients with non-small cell lung cancer and leptomeningeal metastases: a retrospective study.Frontiers in oncology · 2025Review
- Next-generation sequencing of circulating tumor DNA in cerebrospinal fluid for detecting gene mutations in central nervous system lymphoma patients.Therapeutic advances in hematology · 2025Article
- Article
- Radiotherapy and Systemic Treatment for Leptomeningeal Disease.Biomedicines · 2024Review
- [Advances in Clinical Application of Cerebrospinal Fluid Circulating Tumor DNA in Leptomeningeal Metastasis of Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2024Review
- Cerebrospinal Fluid Liquid Biopsies in the Evaluation of Adult Gliomas.Current oncology reports · 2024Review
- Clinical applications of cerebrospinal fluid liquid biopsies in central nervous system tumors.Translational oncology · 2024Article
- Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care.Pigment cell & melanoma research · 2024Review
- Applications of cerebrospinal fluid circulating tumor cells and circulating tumor-derived DNA in diagnosis, prognosis, and personalized treatment of CNS metastases.Frontiers in oncology · 2024Review
- Cerebrospinal fluid circulating tumour DNA genotyping and survival analysis in lung adenocarcinoma with leptomeningeal metastases.Journal of neuro-oncology · 2023Article
- Diagnostic and Therapeutic Updates in Leptomeningeal Disease.Current oncology reports · 2023Review
- Cerebrospinal fluid: A unique source of circulating tumor DNA with broad clinical applications.Translational oncology · 2023Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundMeningeal carcinomatosis (MC) is the most severe form of brain metastasis and causes significant morbidity and mortality. Currently, the diagnosis of MC is routinely confirmed on the basis of clinical manifestation, positive cerebrospinal fluid (CSF) cytology, and/or neuroimaging features. However, negative rate of CSF cytology and neuroimaging findings often result in a failure to diagnose MC from the patients who actually have the disease. Here we evaluate the CSF circulating tumor DNA (ctDNA) in the diagnosis of MC.
methodsA total of 35 CSF samples were collected from 35 patients with MC for CSF cytology examination, CSF ctDNA extraction and cancer-associated gene mutations detection by next-generation sequencing (NGS) at the same time.
resultsThe most frequent primary tumor in this study was lung cancer (26/35, 74%), followed by gastric cancer (2/35, 6%), breast cancer (2/35, 6%), prostatic cancer (1/35, 3%), parotid gland carcinoma (1/35, 3%) and lymphoma (1/35, 3%) while no primary tumor could be found in the remaining 2 patients in spite of using various inspection methods. Twenty-five CSF samples (25/35; 71%) were found neoplastic cells in CSF cytology examination while all of the 35 CSF samples (35/35; 100%) were revealed having detectable ctDNA in which cancer-associated gene mutations were detected. All of 35 patients with MC in the study underwent contrast-enhanced brain MRI and/or CT and 22 neuroimaging features (22/35; 63%) were consistent with MC. The sensitivity of the neuroimaging was 88% (95% confidence intervals [95% CI], 75 to 100) (p = 22/25) and 63% (95% CI, 47 to 79) (p = 22/35) compared to those of CSF cytology and CSF ctDNA, respectively. The sensitivity of the CSF cytology was 71% (95% CI, 56 to 86) (n = 25/35) compared to that of CSF ctDNA.
conclusionsThis study suggests a higher sensitivity of CSF ctDNA than those of CSF cytology and neuroimaging findings. We find cancer-associated gene mutations in ctDNA from CSF of patients with MC at 100% of our cohort, and utilizing CSF ctDNA as liquid biopsy technology based on the detection of cancer-associated gene mutations may give additional information to diagnose MC with negative CSF cytology and/or negative neuroimaging findings.
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