ArticleBMC cancer2019
Molecular tumor analysis and liquid biopsy: a feasibility investigation analyzing circulating tumor DNA in patients with central nervous system lymphomas.
Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Clinical Value of ctDNA in Hematological Malignancies (Lymphomas, Multiple Myeloma, Myelodysplastic Syndrome, and Leukemia): A Meta-Analysis.Frontiers in oncology · 2021Pooled it
- Urine and cerebrospinal fluid biomarkers for early glioma detection: a systematic review.Diagnostic and prognostic research · 2026Review
- Liquid Biopsy in B and T Cell Lymphomas: From Bench to Bedside.International journal of molecular sciences · 2025Review
- Circulating tumor DNA in lymphoma: technologies and applications.Journal of hematology & oncology · 2025Review
- Liquid biopsy for CNS lymphoma: CSF exosomes and CSF exosomal miR-15a, miR-21, miR-155, miR-210, and miR-19b are promising biomarkers for diagnosis.Molecular biology reports · 2024Article
- Article
- Cerebrospinal fluid: A unique source of circulating tumor DNA with broad clinical applications.Translational oncology · 2023Article
- High-dose methotrexate, thiotepa, orelabrutinib combined with or without rituximab in primary or secondary central nervous system diffuse large B-cell lymphoma: a single-center retrospective analysis.Journal of Cancer · 2023Article
- Prognostic value of pre-transplantation total metabolic tumor volume onInternational journal of hematology · 2022Article
- Circulating tumor DNA in B-cell lymphoma: technical advances, clinical applications, and perspectives for translational research.Leukemia · 2022Review
- Plasma Circulating Tumor DNA in Patients with Primary Central Nervous System Lymphoma.Cancer research and treatment · 2022Article
- Novel insights into the biomarkers and therapies for primary central nervous system lymphoma.Therapeutic advances in medical oncology · 2022Review
- Detection of clonotypic DNA in the cerebrospinal fluid as a marker of central nervous system invasion in lymphoma.Blood advances · 2021Article
- Liquid biopsy of cerebrospinal fluid for MYD88 L265P mutation is useful for diagnosis of central nervous system lymphoma.Cancer science · 2021Article
- Review
- Review
- Review
- Cell free circulating tumor DNA in cerebrospinal fluid detects and monitors central nervous system involvement of B-cell lymphomas.Haematologica · 2021Article
- Liquid biopsy in lymphoma: Molecular methods and clinical applications.Cancer treatment reviews · 2020Review
- A Probabilistic Classification Tool for Genetic Subtypes of Diffuse Large B Cell Lymphoma with Therapeutic Implications.Cancer cell · 2020Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCentral nervous system lymphomas (CNSL) is a devastating disease. Currently, a confirmatory biopsy is required prior to treatment.
objectiveOur investigation aims to prove the feasibility of a minimally-invasive diagnostic approach for the molecular characterization of CNSL.
methodsTissue biopsies from 6 patients with suspected CNSL were analyzed using a 649gene next-generation sequencing (NGS) tumor panel (tumor vs. reference tissue (EDTA-blood)). The individual somatic mutation pattern was used as a basis for the digital PCR analyzing circulating tumor DNA (ctDNA) from plasma and cerebrospinal fluid (CSF) samples, identifying one selected tumor mutation during this first step of the feasibility investigation.
resultsNGS-analysis of biopsy tissue revealed a specific somatic mutation pattern in all confirmed lymphoma samples (n = 5, NGS-sensitivity 100%) and none in the sample identified as normal brain tissue (NGS-specificity 100%). cfDNA-extraction was dependent on the extraction-kit used and feasible in 3 samples, in all of which somatic mutations were detectable (100%). Analysis of CSF-derived cfDNA was superior to plasma-derived cfDNA and routine microscopic analysis (lymphoma cells: n = 2, 40%). One patient showed a divergent molecular pattern, typical of Burkitt-Lymphoma (HIV+, serologic evidence of EBV-infection). Lumbar puncture was tolerated without complications, whereas biopsy caused 3 hemorrhages.
conclusionsOur investigation provides evidence that analysis of cfDNA in central nervous system tumors is feasible using the described protocol. Molecular characterization of CNSL could be achieved by analysis of CSF-derived cfDNA. Knowledge of a tumor's specific mutation pattern may allow initiation of targeted therapies, treatment surveillance and could lead to minimally-invasive diagnostics in the future.
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