TY  - JOUR
AU  - Tauziède-Espariat, Arnault
AU  - Uro-Coste, Emmanuelle
AU  - Sievers, Philipp
AU  - Nicaise, Yvan
AU  - Mariet, Cassandra
AU  - Siegfried, Aurore
AU  - Pierron, Gaëlle
AU  - Guillemot, Delphine
AU  - Benzakoun, Joseph
AU  - Pallud, Johan
AU  - Roques, Margaux
AU  - Bonneville, Fabrice
AU  - Larrieu-Ciron, Delphine
AU  - Chaynes, Patrick
AU  - Saffroy, Raphaël
AU  - Hamelin, Jocelyne
AU  - Hasty, Lauren
AU  - Métais, Alice
AU  - Chrétien, Fabrice
AU  - Kool, Marcel
AU  - Gojo, Johannes
AU  - Varlet, Pascale
TI  - CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.
JO  - Acta Neuropathologica Communications
VL  - 11
IS  - 1
SN  - 2051-5960
CY  - London
PB  - Biomed Central
M1  - DKFZ-2023-00353
SP  - 26
PY  - 2023
AB  - 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.
KW  - Child
KW  - Adult
KW  - Humans
KW  - Prevalence
KW  - Central Nervous System Neoplasms: genetics
KW  - Biomarkers, Tumor: analysis
KW  - Proto-Oncogene Proteins: genetics
KW  - Proto-Oncogene Proteins: metabolism
KW  - Repressor Proteins: genetics
KW  - E1A-Associated p300 Protein: genetics
KW  - Adult (Other)
KW  - BCOR (Other)
KW  - EP300 (Other)
KW  - Biomarkers, Tumor (NLM Chemicals)
KW  - BCOR protein, human (NLM Chemicals)
KW  - Proto-Oncogene Proteins (NLM Chemicals)
KW  - Repressor Proteins (NLM Chemicals)
KW  - EP300 protein, human (NLM Chemicals)
KW  - E1A-Associated p300 Protein (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:36782314
C2  - pmc:PMC9926824
DO  - DOI:10.1186/s40478-023-01523-y
UR  - https://inrepo02.dkfz.de/record/271000
ER  -