ArticleOncotarget2017
Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 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
- Diagnostic markers for CNS lymphoma in blood and cerebrospinal fluid: a systematic review.British journal of haematology · 2018Pooled it
- 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
- Clinicopathological, Genomic, and Transcriptomic Feature Analysis of Primary Adrenal Large B-cell Lymphoma: Insights Into Immune-privileged Sites.The American journal of surgical pathology · 2025Article
- Liquid Biopsy in B and T Cell Lymphomas: From Bench to Bedside.International journal of molecular sciences · 2025Review
- Liquid Biopsy as a Diagnostic and Monitoring Tool in Glioblastoma.Medicina (Kaunas, Lithuania) · 2025Review
- Liquid biopsy in cancer current: status, challenges and future prospects.Signal transduction and targeted therapy · 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
- Improved early outcome prediction by MRI-based 3D tumor volume assessment in patients with CNS lymphomas.Neuro-oncology · 2024Article
- Clinical outcomes of newly diagnosed primary central nervous system lymphoma treated with zanubrutinib-based combination therapy.World journal of clinical oncology · 2023Article
- Utility of cerebrospinal fluid liquid biopsy in distinguishing CNS lymphoma from cerebrospinal infectious/demyelinating diseases.Cancer medicine · 2023Article
- Review
- Rapid detection of the MYD88 L265P mutation for pre- and intra-operative diagnosis of primary central nervous system lymphoma.Cancer science · 2023Article
- cfSNV: a software tool for the sensitive detection of somatic mutations from cell-free DNA.Nature protocols · 2023Review
- Review
- Circulating Tumor DNA Profiling for Detection, Risk Stratification, and Classification of Brain Lymphomas.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- Article
- Liquid biopsies and minimal residual disease in lymphoid malignancies.Frontiers in oncology · 2023Review
- Circulating Tumor DNA in Lymphoma.Current hematologic malignancy reports · 2022Review
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary central nervous system lymphomas (PCNSL) have recurrent genomic alterations. The main objective of our study was to demonstrate that targeted sequencing of circulating cell-free DNA (cfDNA) released by PCNSL at the time of diagnosis could identify somatic mutations by next-generation sequencing (NGS). PATIENTS AND
methodsPlasmacfDNA and matched tumor DNA (tDNA) from 25 PCNSL patients were sequenced using an Ion Torrent Personal Genome Machine (Life Technologies®). First, patient-specific targeted sequencing of identified somatic mutations in tDNA was performed. Then, a second sequencing targeting MYD88 c.T778C was performed and compared to plasma samples from 25 age-matched control patients suffering from other types of cancer.
resultsAccording to the patient-specific targeted sequencing, eight patients (32% [95% CI 15-54%]) had detectable somatic mutations in cfDNA. Considering MYD88 sequencing, six patients had the specific c.T778C alteration detected in plasma. Using a control group, the sensitivity was 24% [9-45%] and the specificity was 100%. Tumor volume or deep brain structure involvement did not influence the detection of somatic mutations in plasma.
conclusionThis pilot study provided evidence that somatic mutations can be detected by NGS in the cfDNA of a subset of patients suffering from PCNSL.
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Registered trials
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