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

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State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_3003F0E051CF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Large B-cell lymphomas with CCND1 rearrangement have different immunoglobulin gene breakpoints and genomic profile than mantle cell lymphoma.
Journal
Blood cancer journal
Author(s)
Özoğul E., Montaner A., Pol M., Frigola G., Balagué O., Syrykh C., Bousquets-Muñoz P., Royo R., Fontaine J., Traverse-Glehen A., Bühler M.M., Giudici L., Roncador M., Zenz T., Carras S., Valmary-Degano S., de Leval L., Bosch-Schips J., Climent F., Salmeron-Villalobos J., Bashiri M., Ruiz-Gaspà S., Costa D., Beà S., Salaverria I., Giné E., Quintanilla-Martinez L., Brousset P., Raffeld M., Jaffe E.S., Puente X.S., López C., Nadeu F., Campo E.
ISSN
2044-5385 (Electronic)
ISSN-L
2044-5385
Publication state
Published
Issued date
23/09/2024
Peer-reviewed
Oui
Volume
14
Number
1
Pages
166
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
Keywords
Humans, Lymphoma, Mantle-Cell/genetics, Lymphoma, Mantle-Cell/pathology, Cyclin D1/genetics, Lymphoma, Large B-Cell, Diffuse/genetics, Male, Female, Translocation, Genetic, Middle Aged, Aged, Chromosome Breakpoints, Genes, Immunoglobulin, Gene Rearrangement, V(D)J Recombination/genetics
Pubmed
Open Access
Yes
Create date
25/09/2024 9:17
Last modification date
26/09/2024 7:22
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