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DC Field | Value | Language |
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dc.contributor.author | Frauenfeld, Leonie | - |
dc.contributor.author | Castrejón de Anta, Natalia | - |
dc.contributor.author | Ramis Zaldívar, Joan Enric | - |
dc.contributor.author | Streich, Sebastian | - |
dc.contributor.author | Salmerón Villalobos, Julia | - |
dc.contributor.author | Otto, Franziska | - |
dc.contributor.author | Mayer, Annika Katharina | - |
dc.contributor.author | Steinhilber, Julia | - |
dc.contributor.author | Pinyol, Magda | - |
dc.contributor.author | Mankel, Barbara | - |
dc.contributor.author | Ramsower, Colleen | - |
dc.contributor.author | Bonzheim, Irina | - |
dc.contributor.author | Fend, Falko | - |
dc.contributor.author | Rimsza, Lisa M. | - |
dc.contributor.author | Salaverria Lete, Itziar | - |
dc.contributor.author | Campo Güerri, Elias | - |
dc.contributor.author | Balague, Olga | - |
dc.contributor.author | Quintanilla Martinez, Leticia | - |
dc.date.accessioned | 2023-06-19T11:42:24Z | - |
dc.date.available | 2023-06-19T11:42:24Z | - |
dc.date.issued | 2021-10-15 | - |
dc.identifier.issn | 2473-9529. | - |
dc.identifier.uri | http://hdl.handle.net/2445/199465 | - |
dc.description.abstract | Diffuse large B-cell lymphoma (DLBCL) with aberrant co-expression of CD10+BCL6+MUM1+ (DLBCL-AE), classified as germinal center B cell (GCB)-type by the Hans algorithm (HA), were genetically characterized. To capture the complexity of these DLBCL-AE, we used an integrated approach including gene expression profiling (GEP), fluorescence in-situ hybridization (FISH), targeted gene sequencing, and copy number (CN) arrays. According to GEP, 32/54 (59%) cases were classified as GCB-DLBCL, 16/54 (30%) as activated B-cell (ABC)-DLBCL and 6/54 (11%) as unclassifiable. The discrepancy between HA and GEP was 41%. Three genetic subgroups were identified. Group 1 included 13/50 (26%) cases without translocations and mainly showing and ABC/MCD molecular profile. Group 2 comprised 11/50 (22%) cases with IRF4 alterations (DLBCL-IRF4), frequent mutations in IRF4 (82%) and NF-?B pathway genes (MYD88, CARD11, and CD79B), and losses of 17p13.2. Five cases each were classified as GCB- or ABC-type. Group 3 included 26/50 (52%) cases with one or several translocations in BCL2/BCL6/MYC/IGH and GCB/EZB molecular profile predominated. Two cases in this latter group showed complex BCL2/BCL6/IRF4 translocations. DLBCL-IRF4 in adults showed a similar CN profile and share recurrent CARD11 and CD79B mutations when compared to LBCL-IRF4 in pediatric population. However, adult cases showed higher genetic complexity, higher mutational load with frequent MYD88 and KMT2D mutations, and more often ABC-GEP. IRF4 mutations were identified only in IRF4-rearranged cases indicating its potential utility in the diagnostic setting. In conclusion, DLBCL-AE are genetically heterogeneous and enriched in cases with IRF4 alterations. DLBCL-IRF4 in adults has many similarities to the pediatric counterpart.Copyright © 2021 American Society of Hematology. | - |
dc.format.extent | 12 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | American Society of Hematology | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1182/bloodadvances.2021006034 | - |
dc.relation.ispartof | Blood Advances, 2022, vol. 6, num. 7, p. 2361-2372 | - |
dc.relation.uri | https://doi.org/10.1182/bloodadvances.2021006034 | - |
dc.rights | cc by-nc-nd (c) Frauenfeld, Leonie et al, 2022 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) | - |
dc.subject.classification | Limfomes | - |
dc.subject.classification | Genètica mèdica | - |
dc.subject.other | Lymphomas | - |
dc.subject.other | Medical genetics | - |
dc.title | Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2023-06-08T09:28:24Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.idimarina | 9276822 | - |
dc.identifier.pmid | 34654055 | - |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
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File | Description | Size | Format | |
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Diffuse large B-cell lymphomas in adults with aberrant coexpression of_BloodAdvances.pdf | 3.02 MB | Adobe PDF | View/Open |
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