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Diffuse large B-cell lymphomas in adults with aberrant coexpression of_BloodAdvances.pdf (2.94 MB)

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2021-10-15

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cc by-nc-nd (c) Frauenfeld, Leonie et al, 2022
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/199465

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements

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https://doi.org/10.1182/bloodadvances.2021006034

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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.

Matèries

Limfomes, Genètica mèdica

Matèries (anglès)

Lymphomas, Medical genetics

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Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

FRAUENFELD, Leonie, CASTREJÓN DE ANTA, Natalia, RAMIS ZALDÍVAR, Joan enric, STREICH, Sebastian, SALMERÓN VILLALOBOS, Julia, OTTO, Franziska, MAYER, Annika katharina, STEINHILBER, Julia, PINYOL, Magda, MANKEL, Barbara, RAMSOWER, Colleen, BONZHEIM, Irina, FEND, Falko, RIMSZA, Lisa, SALAVERRIA LETE, Itziar, CAMPO GÜERRI, Elias, BALAGUE, Olga, QUINTANILLA MARTINEZ, Leticia. Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements. _Blood Advances_. 2022. Vol. 6, núm. 7, pàgs. 2361-2372. [consulta: 20 de gener de 2026]. ISSN: 2473-9529.. [Disponible a: https://hdl.handle.net/2445/199465]

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