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000271000 1001_ $$aTauziède-Espariat, Arnault$$b0
000271000 245__ $$aCNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.
000271000 260__ $$aLondon$$bBiomed Central$$c2023
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000271000 520__ $$aThe Central Nervous System (CNS) tumor with BCOR internal tandem duplication (ITD) has recently been added as a novel embryonal histomolecular tumor type to the 2021 World Health Organization (WHO) Classification of CNS Tumors. In addition, other CNS tumors harboring a BCOR/BCORL1 fusion, which are defined by a distinct DNA-methylation profile, have been recently identified in the literature but clinical, radiological and histopathological data remain scarce. Herein, we present two adult cases of CNS tumors with EP300::BCOR fusion. These two cases presented radiological, histopathological, and immunohistochemical homologies with CNS tumors having BCOR ITD in children. To compare these tumors with different BCOR alterations, we performed a literature review with a meta-analysis. CNS tumors with EP300::BCOR fusion seem to be distinct from their BCOR ITD counterparts in terms of age, location, progression-free survival, tumor growth pattern, and immunopositivity for the BCOR protein. CNS tumors from the EP300::BCOR fusion methylation class in adults may be added to the future WHO classification.
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000271000 650_7 $$2Other$$aAdult
000271000 650_7 $$2Other$$aBCOR
000271000 650_7 $$2Other$$aEP300
000271000 650_7 $$2NLM Chemicals$$aBiomarkers, Tumor
000271000 650_7 $$2NLM Chemicals$$aBCOR protein, human
000271000 650_7 $$2NLM Chemicals$$aProto-Oncogene Proteins
000271000 650_7 $$2NLM Chemicals$$aRepressor Proteins
000271000 650_7 $$0EC 2.3.1.48$$2NLM Chemicals$$aEP300 protein, human
000271000 650_7 $$0EC 2.3.1.48$$2NLM Chemicals$$aE1A-Associated p300 Protein
000271000 650_2 $$2MeSH$$aChild
000271000 650_2 $$2MeSH$$aAdult
000271000 650_2 $$2MeSH$$aHumans
000271000 650_2 $$2MeSH$$aPrevalence
000271000 650_2 $$2MeSH$$aCentral Nervous System Neoplasms: genetics
000271000 650_2 $$2MeSH$$aBiomarkers, Tumor: analysis
000271000 650_2 $$2MeSH$$aProto-Oncogene Proteins: genetics
000271000 650_2 $$2MeSH$$aProto-Oncogene Proteins: metabolism
000271000 650_2 $$2MeSH$$aRepressor Proteins: genetics
000271000 650_2 $$2MeSH$$aE1A-Associated p300 Protein: genetics
000271000 7001_ $$aUro-Coste, Emmanuelle$$b1
000271000 7001_ $$0P:(DE-He78)8aad075b17d93a5636a34942bdbd7ee6$$aSievers, Philipp$$b2$$udkfz
000271000 7001_ $$aNicaise, Yvan$$b3
000271000 7001_ $$aMariet, Cassandra$$b4
000271000 7001_ $$aSiegfried, Aurore$$b5
000271000 7001_ $$aPierron, Gaëlle$$b6
000271000 7001_ $$aGuillemot, Delphine$$b7
000271000 7001_ $$aBenzakoun, Joseph$$b8
000271000 7001_ $$aPallud, Johan$$b9
000271000 7001_ $$aRoques, Margaux$$b10
000271000 7001_ $$aBonneville, Fabrice$$b11
000271000 7001_ $$aLarrieu-Ciron, Delphine$$b12
000271000 7001_ $$aChaynes, Patrick$$b13
000271000 7001_ $$aSaffroy, Raphaël$$b14
000271000 7001_ $$aHamelin, Jocelyne$$b15
000271000 7001_ $$aHasty, Lauren$$b16
000271000 7001_ $$aMétais, Alice$$b17
000271000 7001_ $$aChrétien, Fabrice$$b18
000271000 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b19$$udkfz
000271000 7001_ $$aGojo, Johannes$$b20
000271000 7001_ $$aVarlet, Pascale$$b21
000271000 7001_ $$aRENOCLIP-LOC$$b22$$eCollaboration Author
000271000 773__ $$0PERI:(DE-600)2715589-4$$a10.1186/s40478-023-01523-y$$gVol. 11, no. 1, p. 26$$n1$$p26$$tActa Neuropathologica Communications$$v11$$x2051-5960$$y2023
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