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- Title
CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.
- Authors
Tauziède-Espariat, Arnault; Uro-Coste, Emmanuelle; Sievers, Philipp; Nicaise, Yvan; Mariet, Cassandra; Siegfried, Aurore; Pierron, Gaëlle; Guillemot, Delphine; Benzakoun, Joseph; Pallud, Johan; Roques, Margaux; Bonneville, Fabrice; Larrieu-Ciron, Delphine; Chaynes, Patrick; Saffroy, Raphaël; Hamelin, Jocelyne; Hasty, Lauren; Métais, Alice; Chrétien, Fabrice; Kool, Marcel
- 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.
- Subjects
WORLD Health Organization; CENTRAL nervous system; TUMOR growth; PROGRESSION-free survival
- Publication
Acta Neuropathologica Communications, 2023, Vol 11, Issue 1, p1
- ISSN
2051-5960
- Publication type
Article
- DOI
10.1186/s40478-023-01523-y