ArticleJournal of neuro-oncology2018
Characterization of genomic alterations in primary central nervous system lymphomas.
Article in Journal of neuro-oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Genetic orchestration of the primary central nervous system lymphoma microenvironment.Biomarker research · 2026Review
- Primary central nervous system lymphoma in the molecular era: genomic drivers, liquid biopsy, and targeted therapeutic strategies.Annals of hematology · 2026Review
- Genomic landscape and molecular subtypes of primary central nervous system lymphoma.Blood cancer journal · 2025Article
- Review
- Blood-brain barrier crossing biopolymer targeting c-Myc and anti-PD-1 activate primary brain lymphoma immunity: Artificial intelligence analysis.Journal of controlled release : official journal of the Controlled Release Society · 2025Article
- The Molecular Landscape of Primary CNS Lymphomas (PCNSLs) in Children and Young Adults.Cancers · 2024Article
- Updates of primary central nervous system lymphoma.Therapeutic advances in hematology · 2024Review
- Diagnosis and management of vitreoretinal lymphoma: present and future treatment perspectives.Japanese journal of ophthalmology · 2023Review
- Primary central nervous system lymphoma.Nature reviews. Disease primers · 2023Review
- The Methylation of the p53 Targets the GenesGenes · 2022Article
- Review
- Tumor recurrence or treatment-related changes following chemoradiation in patients with glioblastoma: does pathology predict outcomes?Journal of neuro-oncology · 2021Article
- The immune contexture of primary central nervous system diffuse large B cell lymphoma associates with patient survival and specific cell signaling.Theranostics · 2021Article
- Adult diffuse midline gliomas: Clinical, radiological, and genetic characteristics.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2020Article
- Effectiveness of digital PCR for MYD88Experimental and therapeutic medicine · 2020Article
- Molecular characteristics and clinical features of multifocal glioblastoma.Journal of neuro-oncology · 2020Article
- Lymphomas arising in immune-privileged sites: insights into biology, diagnosis, and pathogenesis.Virchows Archiv : an international journal of pathology · 2020Review
- Rare cases of primary central nervous system anaplastic variant of diffuse large B-cell lymphoma.Diagnostic pathology · 2019Article
- Role of miRNA-21 in the diagnosis and prediction of treatment efficacy of primary central nervous system lymphoma.Oncology letters · 2019Article
- Primary CNS lymphoma commonly expresses immune response biomarkers.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary central nervous system lymphoma (PCNSL) is a non-Hodgkin lymphoma that affects the central nervous system (CNS). Although previous studies have reported the most common mutated genes in PCNSL, including MYD88 and CD79b, our understanding of genetic characterizations in primary CNS lymphomas is limited. The aim of this study was to perform a retrospective analysis investigating the most frequent mutation types, and their frequency, in PCNSL.
methodsFifteen patients with a diagnosis of PCNSL from our institution were analyzed for mutations in 406 genes and rearrangements in 31 genes by next generation sequencing (NGS).
resultsMissense mutations were identified as the most common mutation type (32%) followed by frame shift mutations (23%). The highest mutation rate was reported in the MYD88 (33.3%), CDKN2A/B (33.3%), and TP53 (26.7%) genes. Intermediate tumor mutation burden (TMB) and high TMB was detected in 13.3% and 26.7% of PCNSL, respectively. The most frequent gene rearrangement involved the IGH-BCL6 genes (20%).
conclusionsThis study shows the most common genetic alterations in PCNSL as determined by a commercial next generation sequencing assay. MYD88 and CD79b are frequently mutated in PCNSL, IGH-BCL6 is the most frequent gene rearrangement and approximately 1/4 of cases show a high TMB. Mutations in multiple genes, in addition to high TMB and gene rearrangements, highlights the complex molecular heterogeneity of PCNSL. Knowledge about genetic alterations in PCNSL can inform the development of novel targets for diagnosis and treatment.
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