Journal Article (Review Article)

DKFZ-2023-00353

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.

Tauziède-Espariat, A. ; Uro-Coste, E. ; Sievers, P.DKFZ* ; Nicaise, Y. ; Mariet, C. ; Siegfried, A. ; Pierron, G. ; Guillemot, D. ; Benzakoun, J. ; Pallud, J. ; Roques, M. ; Bonneville, F. ; Larrieu-Ciron, D. ; Chaynes, P. ; Saffroy, R. ; Hamelin, J. ; Hasty, L. ; Métais, A. ; Chrétien, F. ; Kool, M.DKFZ* ; Gojo, J. ; Varlet, P. ; RENOCLIP-LOC (Collaboration Author)

2023
Biomed Central London

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Please use a persistent id in citations: doi:10.1186/s40478-023-01523-y

Abstract: 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.

Keyword(s): Child (MeSH) ; Adult (MeSH) ; Humans (MeSH) ; Prevalence (MeSH) ; Central Nervous System Neoplasms: genetics (MeSH) ; Biomarkers, Tumor: analysis (MeSH) ; Proto-Oncogene Proteins: genetics (MeSH) ; Proto-Oncogene Proteins: metabolism (MeSH) ; Repressor Proteins: genetics (MeSH) ; E1A-Associated p300 Protein: genetics (MeSH) ; Adult ; BCOR ; EP300 ; Biomarkers, Tumor ; BCOR protein, human ; Proto-Oncogene Proteins ; Repressor Proteins ; EP300 protein, human ; E1A-Associated p300 Protein

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Contributing Institute(s):

1. KKE Neuropathologie (B300)
2. DKTK HD zentral (HD01)
3. B062 Pädiatrische Neuroonkologie (B062)

Research Program(s):

1. 312 - Funktionelle und strukturelle Genomforschung (POF4-312) (POF4-312)

Appears in the scientific report 2023

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Database coverage:
; ; Article Processing Charges ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Ebsco Academic Search ; Essential Science Indicators ; Fees ; IF >= 5 ; JCR ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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