{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001007053"],"host":["EGA"],"description":["EGA study EGAS00001007053"],"dataset_title":["DNA and RNAseq of serial biopsies from 75 DLBCL patients"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["Histiocytic Lymphoma, DLBCL, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Complete Exome Sequencings, Biopsies, Complete Exome, Histiocytic, diffuse large B-cell lymphoma, Diffuse., Complete Exome Sequencing, Whole Transcriptome Sequencing, Exome, whole genome, Sequencing, Diffuse, Diffuse Large-Cell, Large-Cell, Diffuse Large B Cell Lymphoma, Diffuse Histiocytic Lymphomas, Large Cell Lymphoma, Exome Sequencing, Diffuse Large Cell Lymphoma, Whole Exome, Large Lymphoid Lymphoma, Histiocytic Lymphomas, Large B-Cell, Whole, Lymphoma, Diffuse Histiocytic Lymphoma, Whole Exome Sequencing, Whole Transcriptome, Transcriptome Sequencing, Diffuse Large B-Cell Lymphoma, Diffuse Large-Cell Lymphomas, Large Cell, Diffuse Large Cell, Transcriptome Sequencings, Diffuse Large-Cell Lymphoma, Large Lymphoid, Diffuse Histiocytic, Large-Cell Lymphoma"],"description_synonyms":["Antemortem Diagnosis, Materials, Feature, Tumor, Diagnosis, Long Term, Mutations, dmTAF[[II]]230, Classifications, School-Age, Techniques, relapse, hierarchies, hierarchy, diseases, Method, systematics, symptoms, Scanning Transmission Electron Microscopy, diseases and disorders, Whole Transcriptome, Transcriptome Sequencing, Relapses, cytopathology, Fs(3)Hor, primary stem, Effect, Progression, treatment, Histiocytic Lymphoma, increased, DmelCG2684, human disease, Biopsies, TFIID TAF250, Genomes, diffuse large B-cell lymphoma, cel, Complete Exome Sequencing, Recurrences, Whole Transcriptome Sequencing, procedures, NTef2, Large Cell Lymphoma, Methodological Studies, disease management, Exacerbation, Therapies, s, Homo sapiens disease, Diffuse Large B-Cell Lymphoma, Malignancies, Long-Term Effects, Diagnose, Tumors, Therapy, Relapse, screening, dTAF[[II]]230, Exome, Disease Exacerbation, TAF200, Systematics, Longterm Effect, Procedure, TAFII-250, TAF250/230, not genetically inherited, results, Fs(3)Sz11, Diagnoses, Electron Microscopy, Taxonomies, TAFII250, Postmortem, Screenings, Benign, Recrudescence, School Age, Examinations and Diagnoses, Diseases, Chemotherapy, Genetic Materials, Postmortem Diagnosis, Diffuse Large Cell, Genetic Material, Large-Cell Lymphoma, Diagnoses and Examination, Populations, Complete Transcriptome, Postmortem Diagnoses, Pharmacotherapy, histopathology, Transplantation, signs, Benign Neoplasms, Methodological, whole genome, Features, CG17603, Methodological Study, TAF[[II]], Treatments, early, Malignant Neoplasms, Diffuse Large-Cell, disease, Patient, primary axis, Taf250, Material, Horka, SR3-5, Lymphoma, STEM, Whole Exome Sequencing, CG2684, Fs(3)Horka, Cistron, School-Age Population, other neoplasm, Transcriptome Sequencings, Diffuse Histiocytic, TAF230, accessory, other disease, d230, Procedures, Complete Exome, taxonomy, Effects, chemotherapy, Neoplasms, number, Benign Neoplasm, Gene, stalk, dTAFII250, pharmacotherapy, Pharmacotherapies, EfW1, Malignant, supernumerary, Chemotherapies, Diffuse Large B Cell Lymphoma, Client., Large Lymphoid Lymphoma, dmTAF1, Taf230, heredity, Clinical Progression, Studies, Mass, Screening, disease or disorder, DmF2, Antemortem, Drug Therapies, Technique, TAF250, lod, DLBCL, School-Age Populations, WES, Taf200, Taxonomy, Complete, Exome Sequencings, dTAF[[II]]250, Clinical, pattern, Genetic, Malignancy, Longterm, Recrudescences, cell, distribution, Taf1p, Intentions, Long-Term, Diagnoses and Examinations, Population, culm, Sequencing, Diffuse, non-neoplastic, Study, Neoplasias, dTAF250, Large-Cell, Diffuse Large Cell Lymphoma, Whole Exome, Clinical Course, Histiocytic Lymphomas, Clients, Whole, disorder, Diffuse Large-Cell Lymphomas, Long-Term Effect, Characteristics, School Age Population, TAF, Cancer, Antemortem Diagnoses, Disease, TAF[[II]]250, findings, Complete Exome Sequencings, Malignant Neoplasm, axis, disorders, l(3)84Ab, Scanning Transmission, BG:DS00004.13, medical condition, Cistrons, Client, Cell, Examination and Diagnoses, dTAF230, Exome Sequencing, Characteristic, Large B-Cell, Mass Screenings, p230, Long Term Effects, Neoplasm, TAF[[II]]250/230, TFIID, condition, techniques, Large Cell, Diffuse Large-Cell Lymphoma, Taf[[II]]250, Complete Transcriptome Sequencing, TAF[[II]]230, distinct, Histiocytic, increased number, TAF[II]250, patient, Cancers, Lds, School Age Populations, Longterm Effects, Drug, present in greater numbers in organism, Diffuse Histiocytic Lymphomas, DmelCG17603, Therapeutic, Diffuse Histiocytic Lymphoma, cardinality, Treatment, pharmacologic therapy, biopsy, Large Lymphoid, Neoplasia, methodology, TAF1"],"additional_accession":[]},"is_claimable":false,"name":"Whole genome and whole exome sequencing of serial biopsies of relapsed/refractory diffuse large B-cell lymphoma.","description":"Purpose: Diffuse large B-cell lymphoma (DLBCL) is cured in more than 60% of patients, but outcomes remain poor for patients experiencing disease progression or relapse (refractory or relapsed DLBCL [rrDLBCL]), particularly if these events occur early. Although previous studies examining cohorts of rrDLBCL have identified features that are enriched at relapse, few have directly compared serial biopsies to uncover biological and evolutionary dynamics driving rrDLBCL. Here, we sought to confirm the relationship between relapse timing and outcomes after second-line (immuno)chemotherapy and determine the evolutionary dynamics that underpin that relationship.\n\nPatients and methods: Outcomes were examined in a population-based cohort of 221 patients with DLBCL who experienced progression/relapse after frontline treatment and were treated with second-line (immuno)chemotherapy with an intention-to-treat with autologous stem-cell transplantation (ASCT). Serial DLBCL biopsies from a partially overlapping cohort of 129 patients underwent molecular characterization, including whole-genome or whole-exome sequencing in 73 patients.\n\nResults: Outcomes to second-line therapy and ASCT are superior for late relapse (>2 years postdiagnosis) versus primary refractory (<9 months) or early relapse (9-24 months). Diagnostic and relapse biopsies were mostly concordant for cell-of-origin classification and genetics-based subgroup. Despite this concordance, the number of mutations exclusive to each biopsy increased with time since diagnosis, and late relapses shared few mutations with their diagnostic counterpart, demonstrating a branching evolution pattern. In patients with highly divergent tumors, many of the same genes acquired new mutations independently in each tumor, suggesting that the earliest mutations in a shared precursor cell constrain tumor evolution toward the same genetics-based subgroups at both diagnosis and relapse.\n\nConclusion: These results suggest that late relapses commonly represent genetically distinct and chemotherapy-naïve disease and have implications for optimal patient management.","dates":{"updated":"2023-11-08 10:33:56"},"accession":"EGAS00001007053","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001011816","EGAC00001002903"]}}