dc.creator | González-Rincón, Julia | es |
dc.creator | Méndez, Miriam | es |
dc.creator | Gómez, Sagrario | es |
dc.creator | García, Juan F. | es |
dc.creator | Martín, Paloma | es |
dc.creator | Bellas, Carmen | es |
dc.creator | Cruz Merino, Luis de la | es |
dc.creator | Sánchez-Beato, Margarita | es |
dc.date.accessioned | 2024-03-08T18:45:36Z | |
dc.date.available | 2024-03-08T18:45:36Z | |
dc.date.issued | 2019 | |
dc.identifier.citation | González-Rincón, J., Méndez, M., Gómez, S., García, J.F., Martín, P., Bellas, C.,...,Sánchez-Beato, M. (2019). Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma. Plos one, 14 (2), e0212813. https://doi.org/10.1371/journal.pone.0212813. | |
dc.identifier.issn | 1932-6203 | es |
dc.identifier.uri | https://hdl.handle.net/11441/156037 | |
dc.description.abstract | Follicular lymphoma (FL) is an indolent but largely incurable disease. Some patients suffer
histological transformation to a more aggressive subtype with poorer prognosis. This study
aimed to improve our understanding of the genetics underlying FL histological transforma tion, and to identify genetic drivers or promoters of the transformation by elucidating the dif ferences between FL samples from patients who did and did not transform. We conducted
targeted massive parallel sequencing of 22 pre-transformed FL/transformed diffuse large
B-cell lymphoma pairs and 20 diagnostic samples from non-transformed FL patients. Addi tionally, 22 matched samples from 11 transformed FL patients (pre-transformed FL and dif fuse large B-cell lymphoma) and 9 non-transformed FLs were studied for copy number
variation using SNP arrays. We identified recurrently mutated genes that were enriched at
transformation, most notably LRP1B, GNA13 and POU2AF1, which have roles in B-cell differentiation, GC architecture and migration. Mutations in POU2AF1 might be associated
with lower levels of expression, were more frequent in transformed FLs, and seemed to be
specific to transformed- compared with de novo-diffuse large B-cell lymphomas. Pre-trans formed FLs carried more mutations per sample and had greater subclonal heterogeneity
than non-transformed FLs. Finally, we identified four mutated genes in FL samples that dif fered between patients who did and did not transform: NOTCH2, DTX1, UBE2A and
HIST1H1E. The presence of mutations in these genes was associated with shorter time to
transformation when mutated in the FL biopsies. This information might be useful for identi fying patients at higher risk of transformation. | es |
dc.format | application/pdf | es |
dc.format.extent | 16 p. | es |
dc.language.iso | eng | es |
dc.publisher | Public Library Science | es |
dc.relation.ispartof | Plos one, 14 (2), e0212813. | |
dc.rights | Atribución 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | * |
dc.subject | Follicular lymphoma | es |
dc.title | Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma | es |
dc.type | info:eu-repo/semantics/article | es |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Medicina | es |
dc.relation.publisherversion | https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212813 | es |
dc.identifier.doi | 10.1371/journal.pone.0212813 | es |
dc.contributor.group | Universidad de Sevilla. CTS151: Bioquímica médica. | es |
dc.journaltitle | Plos one | es |
dc.publication.volumen | 14 | es |
dc.publication.issue | 2 | es |
dc.publication.initialPage | e0212813 | es |