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CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

by Tauziède-Espariat, Arnault , Métais, Alice , Uro-Coste, Emmanuelle , Chaynes, Patrick , Guillemot, Delphine , Pierron, Gaëlle , Gojo, Johannes , Siegfried, Aurore , Roques, Margaux , Hasty, Lauren , Sievers, Philipp , Bonneville, Fabrice , Pallud, Johan , Hamelin, Jocelyne , Chrétien, Fabrice , Kool, Marcel , Mariet, Cassandra , Saffroy, Raphaël , Nicaise, Yvan , Benzakoun, Joseph , Varlet, Pascale , Larrieu-Ciron, Delphine

in Adult / Adults / BCOR / Biomarkers, Tumor - analysis / Biomedical and Life Sciences / Biomedicine / Brain cancer / Cancer / Case Report / Central Nervous System Neoplasms - genetics / Child / Development and progression / DNA methylation / E1A-Associated p300 Protein - genetics / EP300 / Genetics / Hemorrhage / Human genetics / Humans / Life Sciences / Medical prognosis / Methylation / Neurobiology / Neurology / Neurons and Cognition / Neurosciences / Pathology / Patients / Pediatrics / Prevalence / Proto-Oncogene Proteins - genetics / Proto-Oncogene Proteins - metabolism / Radiation therapy / Repressor Proteins - genetics / Santé publique et épidémiologie / Tumors

2023

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CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

2023

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2023

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Journal Article

CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population

Tauziède-Espariat, Arnault,

Métais, Alice,

Uro-Coste, Emmanuelle,

Chaynes, Patrick,

Guillemot, Delphine,

Pierron, Gaëlle,

Gojo, Johannes,

Siegfried, Aurore,

Roques, Margaux,

Hasty, Lauren,

Sievers, Philipp,

Bonneville, Fabrice,

Pallud, Johan,

Hamelin, Jocelyne,

Chrétien, Fabrice,

Kool, Marcel,

Mariet, Cassandra,

Saffroy, Raphaël,

Nicaise, Yvan,

Benzakoun, Joseph,

Varlet, Pascale,

Larrieu-Ciron, Delphine

2023

Overview

The Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has recently been added as a novel embryonal histomolecular tumor type to the 2021 World Health Organization (WHO) Classification of CNS Tumors. In addition, other CNS tumors harboring a BCOR/BCORL1 fusion , which are defined by a distinct DNA-methylation profile, have been recently identified in the literature but clinical, radiological and histopathological data remain scarce. Herein, we present two adult cases of CNS tumors with EP300::BCOR fusion. These two cases presented radiological, histopathological, and immunohistochemical homologies with CNS tumors having BCOR ITD in children. To compare these tumors with different BCOR alterations, we performed a literature review with a meta-analysis. CNS tumors with EP300::BCOR fusion seem to be distinct from their BCOR ITD counterparts in terms of age, location, progression-free survival, tumor growth pattern, and immunopositivity for the BCOR protein. CNS tumors from the EP300::BCOR fusion methylation class in adults may be added to the future WHO classification.

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Publisher

BioMed Central,BioMed Central Ltd,Nature Publishing Group,BioMed Central part of Springer Science,BMC

Subject

Adult

/ Adults

/ BCOR

/ Biomarkers, Tumor - analysis

/ Biomedical and Life Sciences

/ Biomedicine

/ Brain cancer