@article{10902/36665,
year = {2025},
url = {https://hdl.handle.net/10902/36665},
abstract = {Diffuse Large B-Cell Lymphoma (DLBCL) is a heterogeneous disease characterized by a limited number of molecularly defined subtypes. Recently, genomic-based algorithms have been proposed for the classification of this disease. The whole exome sequencing was conducted on 108 diagnostic samples of diffuse large B-cell lymphoma (DLBCL). Somatic variants, predicted copy number alterations (CNAs), and available fusion data were utilized to classify the cases. Additionally, the enrichment of mutations in the TP53, MYC, and MAPK/ERK pathways was analyzed. Genetic subtypes were identified in approximately 55% of the cases. Cases with a specific genetic subtype exhibited a significantly higher Tumor Mutation Burden compared to molecularly unclassified cases (Mann-Whitney U test, p = 0.024). The prevalence of subtypes varied according to the cell of origin phenotypes. GC-B type DLBCL NOS were classified as EZB (5 cases, 16%), ST2 (5 cases, 16%), and BN2 (1 case, 3%). Four cases (13%) were genetically composite. Three cases of HGBCL/DLBCL double-hit (MYC & BCL2) were classified as EZB-MYC. Forty-three non-GC-B type DLBCL cases were classified as ST2 (5 cases, 11%), BN2 (6 cases, 14%), and MCD (3 cases, 7%). Nine cases were genetically composite (20%). MYC pathway mutations were enriched in cases with EZB and ST2 genetic features, while they were absent in the MCD subtype. TP53 mutations were identified in 11% of the cases. Plasmablastic lymphomas exhibit genetic diversity, with 27% of tumors classified as ST2. Recurrent somatic mutations indicate dysregulation of the JAK/STAT, MAPK/ERK, and tyrosine kinase signaling pathways.},
organization = {SMM, PI16/01397, PI19/00041
Funder: Instituto de Salud Carlos III. Recipient
IDIVAL, Principal Investigador: SMM, https://
www.isciii.es/. The funder has not played any role in the study design, data collection and
analysis, decision to publish, or preparation
of the manuscript. SMM GLD 19/41. Funder:
Gilead Spain. Recipient IDIVAL, Principal
Investigador: SMM, https://becasgileadinvestigacion.es/. The funder has not played any role
in the study design, data collection and analysis, decision to publish, or preparation of the
manuscript. The specific roles of this author is
articulated in the ‘author contributions’ section.
SMM GELTAMO. Funder: GELTAMO. Recipient
IDIVAL, Principal Investigador: SMM, https://
www.geltamo.com/. The funder has not played
any role in the study design, data collection and
analysis, decision to publish, or preparation of
the manuscript},
publisher = {Public Library of Science},
publisher = {PLoS One, 2025, 20(3), e0318689},
title = {Genetic subtyping by whole exome sequencing across diffuse large B cell lymphoma and plasmablastic lymphoma},
author = {Avendaño Pomares, Aitana and Rodríguez Merino, Laura and González de Villambrosía, Sonia and Morata, Jordi and Tonda, Raúl and Arribas, Patricia and Revert, José and Carrillo, Estrella and Grande, Carlos and Roncero, Josep Maria and De Oteyza, Jaime Pérez and Nicolás, Concepción and Gutierrez, Norma and Abrisqueta, Pau and Gutiérrez, Antonio and Ramírez-Páyer, Ángel and Garcia Sancho, Alejandro Martin and González Barca, Eva and Montes Moreno, Santiago and Garcia Conde, Eulogio},
}