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

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Tauziède-Espariat, Arnault | Pierron, Gaëlle | Siegfried, Aurore | Guillemot, Delphine | Uro-Coste, Emmanuelle | Nicaise, Yvan | Castel, David | Catalaa, Isabelle | Larrieu-Ciron, Delphine | Chaynes, Patrick | de Barros, Amaury | Nicolau, Julien | Gareton, Albane | Lechapt, Emmanuèle | Chrétien, Fabrice | Bourdeaut, Franck | Doz, François | Bouchoucha, Yassine | Grill, Jacques | Beccaria, Kévin | Boddaert, Nathalie | Saffroy, Raphaël | Pagès, Mélanie | Varlet, Pascale

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International audience. 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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