{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nadeu F"],"funding":["European Hematology Association","NCI NIH HHS"],"pagination":["1419-1432"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7498364"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["136(12)"],"pubmed_abstract":["Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non-nodal MCL (nnMCL), that differ in their clinicobiological behavior. To identify the genetic and epigenetic alterations determining this diversity, we used whole-genome (n = 61) and exome (n = 21) sequencing (74% cMCL, 26% nnMCL) combined with transcriptome and DNA methylation profiles in the context of 5 MCL reference epigenomes. We identified that open and active chromatin at the major translocation cluster locus might facilitate the t(11;14)(q13;32), which modifies the 3-dimensional structure of the involved regions. This translocation is mainly acquired in precursor B cells mediated by recombination-activating genes in both MC"],"journal":["Blood"],"pubmed_title":["Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes."],"pmcid":["PMC7498364"],"funding_grant_id":["RG5","P01 CA229100"],"pubmed_authors":["Bea S","Kulis M","Siebert R","Chapaprieta V","Torrents D","Diaz-Navarro A","Colomer D","Puiggros M","Aymerich M","Costa D","Castellano G","Jares P","Valdes-Mas R","Duran-Ferrer M","Martin-Subero JI","Vilarrasa-Blasi R","Lopez C","Nadeu F","Puente XS","Kuppers R","Navarro A","Muntanola A","Espinet B","Royo R","Gutierrez-Abril J","Clot G","Campo E","Ribera-Cortada I","Martin-Garcia D","Lopez-Guillermo A","Gine E"],"additional_accession":[]},"is_claimable":false,"name":"Genomic and epigenomic insights into the origin, pathogenesis, and clinical behavior of mantle cell lymphoma subtypes.","description":"Mantle cell lymphoma (MCL) is a mature B-cell neoplasm initially driven by CCND1 rearrangement with 2 molecular subtypes, conventional MCL (cMCL) and leukemic non-nodal MCL (nnMCL), that differ in their clinicobiological behavior. To identify the genetic and epigenetic alterations determining this diversity, we used whole-genome (n = 61) and exome (n = 21) sequencing (74% cMCL, 26% nnMCL) combined with transcriptome and DNA methylation profiles in the context of 5 MCL reference epigenomes. We identified that open and active chromatin at the major translocation cluster locus might facilitate the t(11;14)(q13;32), which modifies the 3-dimensional structure of the involved regions. This translocation is mainly acquired in precursor B cells mediated by recombination-activating genes in both MC","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Sep","modification":"2026-05-02T15:02:28.198Z","creation":"2020-09-30T07:03:48Z"},"accession":"S-EPMC7498364","cross_references":{"pubmed":["32584970"],"doi":["10.1182/blood.2020005289"]}}