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Open Access 01-12-2024 | Ependymoma | Case report

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

Authors: Azadeh Ebrahimi, Andreas Waha, Jens Schittenhelm, Georg Gohla, Martin U Schuhmann, Torsten Pietsch

Published in: Acta Neuropathologica Communications | Issue 1/2024

Abstract

Methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” was recently defined based on methylation profiling and tSNE analysis of a series of 21 neuroepithelial tumors with predominant presence of a BCOR fusion and/or characteristic CNV breakpoints at chromosome 22q12.31 and chromosome Xp11.4. Clear diagnostic criteria are still missing for this tumor type, specially that BCOR/BCOR(L1)-fusion is not a consistent finding in these tumors despite being frequent and that none of the Heidelberger classifier versions is able to clearly identify these cases, in particular tumors with alternative fusions other than those involving BCOR, BCORL1, EP300 and CREBBP. In this study, we introduce a BCOR::CREBBP fusion in an adult patient with a right temporomediobasal tumor, for the first time in association with methylation class “CNS tumor with BCOR/BCOR(L1)-fusion” in addition to 35 cases of CNS neuroepithelial tumors with molecular and histopathological characteristics compatible with “CNS tumor with BCOR/BCOR(L1)-fusion” based on a comprehensive literature review and data mining in the repository of 23 published studies on neuroepithelial brain Tumors including 7207 samples of 6761 patients. Based on our index case and the 35 cases found in the literature, we suggest the archetypical histological and molecular features of “CNS tumor with BCOR/BCOR(L1)-fusion”. We also present four adult diffuse glioma cases including GBM, IDH-Wildtype and Astrocytoma, IDH-Mutant with CREBBP fusions and describe the necessity of complementary molecular analysis in “CNS tumor with BCOR/BCOR(L1)-alterations for securing a final diagnosis.

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Title: BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion
Authors: Azadeh Ebrahimi
Andreas Waha
Jens Schittenhelm
Georg Gohla
Martin U Schuhmann
Torsten Pietsch
Publication date: 01-12-2024
Publisher: BioMed Central
Keywords: Ependymoma
Ependymoma
Ependymoma
Brain Tumor
Published in: Acta Neuropathologica Communications / Issue 1/2024
Electronic ISSN: 2051-5960
DOI: https://doi.org/10.1186/s40478-024-01780-5

2024 ASCO Annual Meeting

Springer Medicine

BCOR::CREBBP fusion in malignant neuroepithelial tumor of CNS expands the spectrum of methylation class CNS tumor with BCOR/BCOR(L1)-fusion

Abstract

2024 ASCO Annual Meeting

Springer Medicine

Abstract

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