{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["20(3)"],"submitter":["Pomares AA"],"pubmed_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 pre"],"journal":["PloS one"],"pagination":["e0318689"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11896070"],"repository":["biostudies-literature"],"pubmed_title":["Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma."],"pmcid":["PMC11896070"],"pubmed_authors":["Grande C","de Oteyza JP","Abrisqueta P","GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain","Gutierrez A","Ramirez-Payer A","Morata J","Gonzalez S","Carrillo E","Montes-Moreno S","Tonda R","Arribas P","Gutierrez N","Merino LR","Revert J","Garcia-Sancho AM","Pomares AA","Roncero JM","Nicolas C","Gonzalez-Barca E"],"additional_accession":[]},"is_claimable":false,"name":"Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma.","description":"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 pre","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-05-18T03:12:07.968Z","creation":"2025-04-04T00:21:37.55Z"},"accession":"S-EPMC11896070","cross_references":{"pubmed":["40067847"],"doi":["10.1371/journal.pone.0318689"]}}