Evidence map›Paper›PMID 40724977›Full record

ArticleInternational journal of molecular sciences2025

CNS Tumor with BCOR/BCORL1 Fusion: A Rare Tumor Entity.

Jerry Lou, William Yong, Kenneth Aldape, Eleanor Chu, Caressa Hui, Frank P K Hsu, Michelle Zheng, Anatevka Ribeiro, Gianna Fote, Daniel Na and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Jerry LouDepartment of Pathology, University of California Irvine, Irvine, CA 92697, USA.ORCID 0009-0009-4241-8994
William YongDepartment of Pathology, University of California Irvine, Irvine, CA 92697, USA.
Kenneth AldapeLaboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Eleanor ChuChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.ORCID 0000-0003-3788-1860
Caressa HuiChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.
Frank P K HsuChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.
Michelle ZhengUC Irvine Charlie Dunlop School of Biological Sciences, University of California, Irvine, CA 92697, USA.
Anatevka RibeiroChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.ORCID 0009-0001-6860-4076
Gianna FoteChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.
Daniel NaChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.
Carlen A YuenChao Family Comprehensive Cancer Center, University of California Irvine, Irvine, CA 92697, USA.ORCID 0000-0003-1950-8819

Funding

Univ.of Calif., Irvine Cancer Center Support GrantP30CA062203 · NCI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Melanie Funes · 1994 to 2026
$57.9M
NCI NIH HHS P30 CA062203
6 · The paper itself

Abstract

Central nervous system (CNS) tumor with BCL6 corepressor gene BCOR/BCORL1 fusion is an extremely rare tumor entity, with fewer than 40 cases reported. These tumors are distinct from the WHO 2021-defined CNS tumor with BCOR internal tandem duplication. Even rarer are CNS tumors that match to the methylation class of CNS tumors with BCOR/BCORL1 fusion, but lack fusions and instead harbor truncating small nucleotide variants in BCOR. To our knowledge, only two other cases of this scenario have been previously reported. Due to their scarcity and morphological features that mimic oligodendrogliomas and ependymomas, the diagnosis of CNS tumor with BCOR/BCORL1 fusion can be challenging, and misdiagnoses are not uncommon. Histologic findings of Olig2 positivity with focal to absent GFAP warrant further evaluation for this tumor entity. Moreover, no standard of care therapy exists for these tumors, making treatment selection difficult. We present a case of a 37-year-old woman with a midline CNS tumor with BCOR/BCORL1 fusion, harboring a pathogenic BCOR c.626del (p.S209Cfs*7) (Exon 4) variant, who was successfully treated with definitive radiation therapy and adjuvant temozolomide. Notably, EMA showed focal strong dot-like perinuclear immunoreactivity, which has not been previously reported in these tumors. This case adds to the limited but growing body of evidence supporting the use of radiation and temozolomide in treating tumors matching the methylation class of CNS tumors with BCOR/BCORL1 fusion without a detectable fusion.

Indexed as

Central Nervous System NeoplasmsOncogene Proteins, FusionProto-Oncogene ProteinsRepressor ProteinsAdultFemaleHumansBCORL1 protein, humanBCOR protein, humanOncogene Proteins, FusionProto-Oncogene ProteinsRepressor ProteinsCNS tumor with BCOR/BCOR(L1) fusionCNS tumor with BCOR internal tandem duplicationependymomaPNETtemozolomide

Identifiers

PMID40724977
PMCPMC12295092

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.