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This study was supported by the PMP21/00015 project from the Instituto de Salud Carlos III (ISCIII) and the "NextGenerationEU/Mechanism for Recovery and Resilience (MRR)/PRTR, by PID2021-123054OB-I00 project from Ministry of Science and Innovation (MCIN) and FEDER "Una manera de hacer Europa" to E.C, by PI22/00203 project from ISCIII and FEDER (to EG and SB); and the Generalitat de Catalunya Suport Grups de Recerca AGAUR (2021-SGR-01172 to E.C. and 2021-SGR-01293 to S.B.). M.P. was supported by the 2022 Estela Matutes Fellowship. F.N. acknowledges research support European Hematology Association (EHA Junior Research Grant 2021, RG-202012-00245). E.C. is an Academia Researcher of the "Institucio Catalana de Recerca i Estudis Avancats" (ICREA) of the Generalitat de Catalunya.

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Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma

Publicado en:Blood Cancer Journal. 14 (1): 166- - 2024-09-23 14(1), DOI: 10.1038/s41408-024-01146-z

Autores: Ozogul, Ece; Montaner, Anna; Pol, Melina; Frigola, Gerard; Balague, Olga; Syrykh, Charlotte; Bousquets-Munoz, Pablo; Royo, Romina; Fontaine, Juliette; Traverse-Glehen, Alexandra; Buhler, Marco M; Giudici, Luca; Roncador, Marco; Zenz, Thorsten; Carras, Sylvain; Valmary-Degano, Severine; de Leval, Laurence; Bosch-Schips, Jan; Climent, Fina; Salmeron-Villalobos, Julia; Bashiri, Melika; Ruiz-Gaspa, Silvia; Costa, Dolors; Bea, Silvia; Salaverria, Itziar; Gine, Eva; Quintanilla-Martinez, Leticia; Brousset, Pierre; Raffeld, Mark; Jaffe, Elaine S; Puente, Xose S; Lopez, Cristina; Nadeu, Ferran; Campo, Elias

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Resumen

Mantle cell lymphoma (MCL) is genetically characterized by the IG::CCND1 translocation mediated by an aberrant V(D)J rearrangement. CCND1 translocations and overexpression have been identified in occasional aggressive B-cell lymphomas with unusual features for MCL. The mechanism generating CCND1 rearrangements in these tumors and their genomic profile are not known. We have reconstructed the IG::CCND1 translocations and the genomic profile of 13 SOX11-negative aggressive B-cell lymphomas using whole genome/exome and target sequencing. The mechanism behind the translocation was an aberrant V(D)J rearrangement in three tumors and by an anomalous IGH class-switch recombination (CSR) or somatic hypermutation (SHM) mechanism in ten. The tumors with a V(D)J-mediated translocation were two blastoid MCL and one high-grade B-cell lymphoma. None of them had a mutational profile suggestive of DLBCL. The ten tumors with CSR/SHM-mediated IGH::CCND1 were mainly large B-cell lymphomas, with mutated genes commonly seen in DLBCL and BCL6 rearrangements in 6. Two cases, which transformed from marginal zone lymphomas, carried mutations in KLF2, TNFAIP3 and KMT2D. These findings expand the spectrum of tumors carrying CCND1 rearrangement that may occur as a secondary event in DLBCL mediated by aberrant CSR/SHM and associated with a mutational profile different from that of MCL.

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