ArticleCancer science2021
Liquid biopsy of cerebrospinal fluid for MYD88 L265P mutation is useful for diagnosis of central nervous system lymphoma.
Article in Cancer science, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 51 citations in OpenAlex.
- Advances in molecular pathobiology of PCNSL - towards clinical implementation of novel diagnostics and therapeutics.Biomarker research · 2026Review
- Timing of autologous stem cell transplantation and induction response in central nervous system lymphoma.International journal of hematology · 2026Article
- Article
- Minimizing the risks of stereotactic brain biopsy in suspected central nervous system lymphoma: a retrospective database study.Journal of cancer research and clinical oncology · 2026Article
- Cross-Cancer Detectability of ctDNA Biomarkers in Asian Populations: Implications for Pan-Cancer Detection.Cancer management and research · 2026Review
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Efficacy and Limitations of Flow Cytometry for the Rapid Diagnosis of Primary Central Nervous System Lymphoma.Cancers · 2025Article
- Acalabrutinib May Offer a New Therapeutic Approach for Consolidation and Maintenance of Primary CNS Lymphoma with Expression of MYD88 and CD79B Gene Variants: A Case Report and Literature Review of Primary CNS Lymphoma in the BTKi Era.International journal of molecular sciences · 2025Review
- Successful treatment of primary intramedullary spinal cord lymphoma based on the molecular diagnosis of a MYD88 mutation in the cerebrospinal fluid: a case report.International cancer conference journal · 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
- Review
- Usefulness of Frameless Neuronavigation-Guided Stereotactic Biopsy for Brain Lesions Under Local Anesthesia: Surgical Outcomes and Feasibility for Molecular Diagnosis-Case Series.Neurosurgery practice · 2025Article
- Evaluation of MYD88 p.L265P detection by digital droplet polymerase chain reaction in cerebrospinal fluid for integrated diagnosis of primary large B-cell lymphoma of the central nervous system.British journal of haematology · 2025Article
- Liquid Biopsy in B and T Cell Lymphomas: From Bench to Bedside.International journal of molecular sciences · 2025Review
- Advances in Primary Central Nervous System Lymphoma.Current neurology and neuroscience reports · 2024Review
- 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
- Primary diffuse large B-cell lymphoma of the central nervous system identified with CSF biomarkers.BMC neurology · 2024Article
- Diagnostics and treatment delay in primary central nervous system lymphoma: What the neurosurgeon should know.Acta neurochirurgica · 2024Review
- Liquid biopsy for improving diagnosis and monitoring of CNS lymphomas: A RANO review.Neuro-oncology · 2024Review
- Detection of circulating tumor DNA in plasma of patients with primary CNS lymphoma by digital droplet PCR.BMC cancer · 2024Article
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
The current standard of diagnosing central nervous system (CNS) lymphoma is stereotactic biopsy, however the procedure has a risk of surgical complication. Liquid biopsy of the CSF is a less invasive, non-surgical method that can be used for diagnosing CNS lymphoma. In this study, we established a clinically applicable protocol for determining mutations in MYD88 in the CSF of patients with CNS lymphoma. CSF was collected prior to the start of chemotherapy from 42 patients with CNS lymphoma and matched tumor specimens. Mutations in MYD88 in 33 tumor samples were identified using pyrosequencing. Using 10 ng each of cellular DNA and cell-free DNA (cfDNA) extracted from the CSF, the MYD88 L265P mutation was detected using digital PCR. The conditions to judge mutation were rigorously determined. The median Target/Total value of cases with MYD88 mutations in the tumors was 5.1% in cellular DNA and 22.0% in cfDNA. The criteria to judge mutation were then determined, with a Target/Total value of 0.25% as the cutoff. When MYD88 mutations were determined based on these criteria, the sensitivity and specificity were 92.2% and 100%, respectively, with cellular DNA; and the sensitivity and specificity were 100% with cfDNA. Therefore, the DNA yield, mutated allele fraction, and accuracy were significantly higher in cfDNA compared with that in cellular DNA. Taken together, this study highlights the importance of detecting the MYD88 L265P mutation in cfDNA of the CSF for diagnosing CNS lymphoma using digital PCR, a highly accurate and clinically applicable method.
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