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

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...

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Hauptverfasser: Tauziède-Espariat, Arnault (VerfasserIn) , Uro-Coste, Emmanuelle (VerfasserIn) , Sievers, Philipp (VerfasserIn) , Nicaise, Yvan (VerfasserIn) , Mariet, Cassandra (VerfasserIn) , Siegfried, Aurore (VerfasserIn) , Pierron, Gaëlle (VerfasserIn) , Guillemot, Delphine (VerfasserIn) , Benzakoun, Joseph (VerfasserIn) , Pallud, Johan (VerfasserIn) , Roques, Margaux (VerfasserIn) , Bonneville, Fabrice (VerfasserIn) , Larrieu-Ciron, Delphine (VerfasserIn) , Chaynes, Patrick (VerfasserIn) , Saffroy, Raphaël (VerfasserIn) , Hamelin, Jocelyne (VerfasserIn) , Hasty, Lauren (VerfasserIn) , Métais, Alice (VerfasserIn) , Chrétien, Fabrice (VerfasserIn) , Kool, Marcel (VerfasserIn) , Gojo, Johannes (VerfasserIn) , Varlet, Pascale (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 13 February 2023
In: Acta Neuropathologica Communications
Year: 2023, Jahrgang: 11, Pages: 1-7
ISSN:2051-5960
DOI:10.1186/s40478-023-01523-y
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s40478-023-01523-y
Volltext
Verfasserangaben:Arnault Tauziède-Espariat, Emmanuelle Uro-Coste, Philipp Sievers, Yvan Nicaise, Cassandra Mariet, Aurore Siegfried, Gaëlle Pierron, Delphine Guillemot, Joseph Benzakoun, Johan Pallud, Margaux Roques, Fabrice Bonneville, Delphine Larrieu-Ciron, Patrick Chaynes, Raphaël Saffroy, Jocelyne Hamelin, Lauren Hasty, Alice Métais, Fabrice Chrétien, Marcel Kool, Johannes Gojo, Pascale Varlet on behalf of RENOCLIP-LOC
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 05.04.2023
Beschreibung:Online Resource
ISSN:2051-5960
DOI:10.1186/s40478-023-01523-y

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