2026-08-10T01:44:26Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/182382024-09-21T21:58:15Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16964

00925njm 22002777a 4500 dc Pedrosa, Lucía author Fernández-Miranda, Ismael author Pérez-Callejo, David author Quero, Cristina author Rodríguez, Marta author Martín-Acosta, Paloma author Gómez, Sagrario author González-Rincón, Julia author Santos, Adrián author Tarin, Carlos author García, Juan F author García-Arroyo, Francisco R author Rueda, Antonio author Camacho, Francisca I author García-Cosío, Mónica author Heredero, Ana author Llanos, Marta author Mollejo, Manuela author Piris-Villaespesa, Miguel author Gómez-Codina, José author Yanguas-Casás, Natalia author Sánchez, Antonio author Piris, Miguel A author Provencio, Mariano author Sánchez-Beato, Margarita author 2021-01-21 Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease whose prognosis is associated with clinical features, cell-of-origin and genetic aberrations. Recent integrative, multi-omic analyses had led to identifying overlapping genetic DLBCL subtypes. We used targeted massive sequencing to analyze 84 diagnostic samples from a multicenter cohort of patients with DLBCL treated with rituximab-containing therapies and a median follow-up of 6 years. The most frequently mutated genes were IGLL5 (43%), KMT2D (33.3%), CREBBP (28.6%), PIM1 (26.2%), and CARD11 (22.6%). Mutations in CD79B were associated with a higher risk of relapse after treatment, whereas patients with mutations in CD79B, ETS1, and CD58 had a significantly shorter survival. Based on the new genetic DLBCL classifications, we tested and validated a simplified method to classify samples in five genetic subtypes analyzing the mutational status of 26 genes and BCL2 and BCL6 translocations. We propose a two-step genetic DLBCL classifier (2-S), integrating the most significant features from previous algorithms, to classify the samples as N12-S, EZB2-S, MCD2-S, BN22-S, and ST22-S groups. We determined its sensitivity and specificity, compared with the other established algorithms, and evaluated its clinical impact. The results showed that ST22-S is the group with the best clinical outcome and N12-S, the more aggressive one. EZB2-S identified a subgroup with a worse prognosis among GCB-DLBLC cases. 10.1038/s41598-020-80376-0 2045-2322 Scientific reports http://hdl.handle.net/10668/17020 33479306 http://hdl.handle.net/20.500.12105/18238 Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.