biostudies-literatureLi Hthe Scientific Research Project of Hunan Provincial Department of Educationthe Scientific Research Project of Hunan Provincial Health CommissionNatural Science Foundation of Hunan ProvinceNational Natural Science Foundation of ChinaHuxiang Youth Talent Support ProgramInternational Centre for Genetic Engineering and Biotechnology15https://www.ebi.ac.uk/biostudies/studies/S-EPMC11756191biostudies-literatureUnknown13(1)Richter syndrome (RS), characterized by aggressive lymphoma arising from chronic lymphocytic leukaemia (CLL), presents a poor response to treatment and grim prognosis. To elucidate RS mechanisms, paired samples from a patient with DLBCL-RS were subjected to single-cell RNA sequencing (scRNA-seq) and high-throughput chromosome conformation capture (Hi-C) sequencing. Over 10,000 cells were profiled via scRNA-seq, revealing the comprehensive B cell transformation in RS. Hi-C sequencing exposed a unique chromatin architecture in RS, with increased proximal and decreased distal interactions. At the compartment scale, the interaction between B compartments was strengthened in DLBCL cells, while topologically associating domains (TADs) in DLBCL had elevated intra-TAD and reduced inter-TAD contactBiomarker researchAberrant c-AMP signalling in richter syndrome revealed by single-cell transcriptome and 3D chromatin analysis.PMC11756191322707912024JJ6566CRP/CHN22-03_EC2022RC1205C2023030463322024JJ65492023JJ6042723A001882070175Peng HLi HSheng YLi JWang PLuo MXing CZhan YfalseAberrant c-AMP signalling in richter syndrome revealed by single-cell transcriptome and 3D chromatin analysis.Richter syndrome (RS), characterized by aggressive lymphoma arising from chronic lymphocytic leukaemia (CLL), presents a poor response to treatment and grim prognosis. To elucidate RS mechanisms, paired samples from a patient with DLBCL-RS were subjected to single-cell RNA sequencing (scRNA-seq) and high-throughput chromosome conformation capture (Hi-C) sequencing. Over 10,000 cells were profiled via scRNA-seq, revealing the comprehensive B cell transformation in RS. Hi-C sequencing exposed a unique chromatin architecture in RS, with increased proximal and decreased distal interactions. At the compartment scale, the interaction between B compartments was strengthened in DLBCL cells, while topologically associating domains (TADs) in DLBCL had elevated intra-TAD and reduced inter-TAD contact2025-01-01T00:00:00Z2025 Jan2025-04-04T02:09:31.706Z2025-04-04T02:09:31.706ZS-EPMC117561913984954410.1186/s40364-024-00723-5