ArticleBrain tumor pathology2022
Diffusely infiltrating glioma with CREBBP-BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report.
Article in Brain tumor pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 13 citations in OpenAlex.
- GLI2::CREBBP fusions define a subset of potentially aggressive nested-hyalinizing epithelioid soft tissue neoplasms.Virchows Archiv : an international journal of pathology · 2026Article
- Case Report: High-grade supratentorial CNS neoplasm withFrontiers in oncology · 2026Article
- BCOR loss promotes both retinoblastoma growth and susceptibility to IGF1R inhibition.Neuro-oncology · 2025Article
- CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity.International journal of molecular sciences · 2025Article
- A novel KDM2A::YAP1 fusion in a pediatric supratentorial CNS neoplasm resembling a tumor with BCOR internal tandem duplication.Free neuropathology · 2025Article
- BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion.Acta neuropathologica communications · 2024Review
- CNS tumor with CREBBP::BCORL1 Fusion and pathogenic mutations in BCOR and CREBBP: expanding the spectrum of BCOR-altered tumors.Acta neuropathologica communications · 2024Article
- Pediatric diffuse glioma with EP300::BCOR fusion manifesting as low-grade epilepsy-associated neuroepithelial tumor: a case presentation.Brain tumor pathology · 2024Article
- When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.Genes, chromosomes & cancer · 2024Article
- High-grade neuroepithelial tumor with EP300::BCOR fusion and negative BCOR immunohistochemical expression: a case report.Brain tumor pathology · 2023Article
- Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.Acta neuropathologica · 2022Article
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Authors and funding
15 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BCORL1 encodes a transcriptional corepressor homolog to BCOR. BCORL1 rearrangements have been previously described as rare events, and among them, CREBBP-BCORL1 has been reported only in 2 cases of ossifying fibromyxoid tumors. Herein, we present the first case of diffusely infiltrating glioma with CREBBP-BCORL1 involving a 17-year-old female patient. Histologically, the tumor was composed of a diffusely infiltrative proliferation of small tumor cells with moderate cellularity showing prominent microcystic formation. DNA methylation analysis revealed that the current case and a previously reported anaplastic ependymoma with EP300-BCORL1 were clustered together in close proximity to but distinct from methylation class high-grade neuroepithelial tumor with BCOR alteration. RNA sequencing demonstrated high mRNA expression of not only BCORL1 but BCOR, and the latter was compatible with diffuse nuclear expression of BCOR detected by immunohistochemistry. Our findings suggest that central nervous system tumors with CREBBP/EP300-BCORL1 may exhibit diverse morphologies but form a distinct DNA methylation group and that BCORL1 fusion genes may lead to upregulation of both BCOR and BCORL1.
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