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

Journal

Blood cancer journal

ISSN: 2044-5385

Titre abrégé: Blood Cancer J

Pays: United States

ID NLM: 101568469

Informations de publication

Date de publication:
23 Sep 2024

Historique:

received: 09 07 2024

accepted: 13 09 2024

revised: 06 09 2024

medline: 24 9 2024

pubmed: 24 9 2024

entrez: 23 9 2024

Statut: epublish

Résumé

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.

Identifiants

DOI: 10.1038/s41408-024-01146-z PMID: 39313500

pubmed: 39313500

doi: 10.1038/s41408-024-01146-z

pii: 10.1038/s41408-024-01146-z

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

166

Subventions

Organisme : Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Institute of Health Carlos III)

ID : PMP21/00015 and PID2021-123054OB-I00

Informations de copyright

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