The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication” - Institut Curie Accéder directement au contenu
Article Dans Une Revue Acta Neuropathologica Communications Année : 2020

The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”

Résumé

High-grade neuroepithelial tumors with the BCOR alteration (HGNET-BCOR) were isolated by a distinct methylation profile from a series of central nervous system (CNS) primitive neuroectodermal tumors (PNET). These tumors are mainly (94%, 45/48 with available molecular data) characterized by a recurrent internal tandem duplication (ITD) of the BCOR (BCL6 Corepressor) gene. In rare cases, HGNET-BCOR presented a deletion of BCOR (3%, 1/48) or a mutation of the BCOR gene (3%,1/48). In one case, molecular analyses failed to reveal any alteration of BCOR.

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Hématologie
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hal-04623269 , version 1 (25-06-2024)

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Arnault Tauziède-Espariat, Gaëlle Pierron, Aurore Siegfried, Delphine Guillemot, Emmanuelle Uro-Coste, et al.. The EP300:BCOR fusion extends the genetic alteration spectrum defining the new tumoral entity of “CNS tumors with BCOR internal tandem duplication”. Acta Neuropathologica Communications, 2020, 8 (1), pp.178. ⟨10.1186/s40478-020-01064-8⟩. ⟨hal-04623269⟩
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