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http://hdl.handle.net/2445/202013
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DC Field | Value | Language |
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dc.contributor.author | Grau, Marta | - |
dc.contributor.author | López, Cristina | - |
dc.contributor.author | Navarro, Alba | - |
dc.contributor.author | Frigola, Gerard | - |
dc.contributor.author | Nadeu, Ferran | - |
dc.contributor.author | Clot, Guillem | - |
dc.contributor.author | Bastidas Mora, Gabriela | - |
dc.contributor.author | Alcoceba, Miguel | - |
dc.contributor.author | Baptista, Maria Joao | - |
dc.contributor.author | Blanes, Margarita | - |
dc.contributor.author | Colomer, Dolors | - |
dc.contributor.author | Costa, Dolors | - |
dc.contributor.author | Domingo Domènech, Eva | - |
dc.contributor.author | Enjuanes, Anna | - |
dc.contributor.author | Escoda, Lourdes | - |
dc.contributor.author | Forcada, Pilar | - |
dc.contributor.author | Giné Soca, Eva | - |
dc.contributor.author | López Guerra, Mònica | - |
dc.contributor.author | Ramón, Olga | - |
dc.contributor.author | Rivas Delgado, Alfredo | - |
dc.contributor.author | Vicente Folch, Laura | - |
dc.contributor.author | Wotherspoon, Andrew | - |
dc.contributor.author | Climent, Fina | - |
dc.contributor.author | Campo, Elías | - |
dc.contributor.author | López Guillermo, Armando | - |
dc.contributor.author | Matutes, Estella | - |
dc.contributor.author | Beà Bobet, Sílvia M. | - |
dc.date.accessioned | 2023-09-19T10:08:32Z | - |
dc.date.available | 2023-09-19T10:08:32Z | - |
dc.date.issued | 2023-07-18 | - |
dc.identifier.issn | 2473-9537 | - |
dc.identifier.uri | http://hdl.handle.net/2445/202013 | - |
dc.description.abstract | The genetic mechanisms associated with splenic marginal zone lymphoma (SMZL) transformation are not well defined. We studied 41 patients with SMZL that eventually underwent large B-cell lymphoma transformation. Tumor material was obtained either only at diagnosis (9 patients), at diagnosis and transformation (18 patients), and only at transformation (14 patients). Samples were categorized in 2 groups: (1) at diagnosis (SMZL, n = 27 samples), and (2) at transformation (SMZL-T, n = 32 samples). Using copy number arrays and a next-generation sequencing custom panel, we identified that the main genomic alterations in SMZL-T involved TNFAIP3, KMT2D, TP53, ARID1A, KLF2, 1q gains, and losses of 9p21.3 (CDKN2A/B) and 7q31-q32. Compared with SMZL, SMZL-T had higher genomic complexity, and higher incidence of TNFAIP3 and TP53 alterations, 9p21.3 (CDKN2A/B) losses, and 6p gains. SMZL and SMZL-T clones arose by divergent evolution from a common altered precursor cell that acquired different genetic alterations in virtually all evaluable cases (92%, 12 of 13 cases). Using whole-genome sequencing of diagnostic and transformation samples in 1 patient, we observed that the SMZL-T sample carried more genomic aberrations than the diagnostic sample, identified a translocation t(14;19)(q32;q13) present in both samples, and detected a focal B2M deletion due to chromothripsis acquired at transformation. Survival analysis showed that KLF2 mutations, complex karyotype, and International Prognostic Index score at transformation were predictive of a shorter survival from transformation (P = .001; P = .042; and P = .007; respectively). In summary, SMZL-T are characterized by higher genomic complexity than SMZL, and characteristic genomic alterations that could represent key players in the transformation event. | - |
dc.format.extent | 15 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.2022009415 | - |
dc.relation.ispartof | Blood Advances, 2023, vol. 7, num. 14, p. 3695-3709 | - |
dc.relation.uri | https://doi.org/10.1182/bloodadvances.2022009415 | - |
dc.rights | cc by-nc-nd (c) Grau, Marta et al., 2023 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ | * |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Leucèmia limfocítica crònica | - |
dc.subject.classification | Genòmica | - |
dc.subject.classification | Genomics | - |
dc.subject.other | Chronic lymphocytic leukemia | - |
dc.title | Unraveling the genetics of transformed splenic marginal zone lymphoma | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2023-09-04T12:44:33Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 36995085 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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File | Description | Size | Format | |
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blooda_adv-2022-009415-main.pdf | 3.7 MB | Adobe PDF | View/Open |
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