版权所有:内蒙古大学图书馆 技术提供:维普资讯• 智图
内蒙古自治区呼和浩特市赛罕区大学西街235号 邮编: 010021
作者机构:Institute of Human Genetics Ulm University and Ulm University Medical Center Ulm Germany. Institute of Human Genetics Christian-Albrechts University Kiel & University Hospital Schleswig-Holstein Campus Kiel Kiel Germany. Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany. Institute of Pharmacy and Molecular Biotechnology and Bioquant University of Heidelberg Heidelberg Germany. Institute of Pharmacology Christian-Albrechts University Kiel Germany. Bioinformatics and Omics Data Analytics DKFZ Heidelberg Germany. Faculty of Biosciences Heidelberg University Heidelberg Germany. Cologne Center for Genomics Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany. Cologne Center for Genomics University of Cologne Cologne Germany. Department of Internal Medicine III University of Ulm Ulm Germany. Pediatric Immunology Hematology and Oncology University Hospital Heidelberg Heidelberg Germany. German Collection of Microorganisms and Cell Cultures Leibniz Institute Braunschweig Germany. Department of Pediatric Hematology and Oncology St Anna Children's Hospital Medical University of Vienna Vienna Austria. Department for Medical Genetics Haukeland University Hospital Bergen Norway. Cancer Cytogenetics Section Hemodiagnostic Laboratory Department of Haematology Cancer and Inflammation Center Aarhus University Hospital Aarhus Denmark. Department of Hematology University Hospital Schleswig-Holstein Kiel Germany. Division of Pediatric Hematology Oncology and Stem Cell Transplantation Medical Faculty RWTH Aachen University Aachen Germany. Institute of Pathology Lausanne University Hospital Lausanne Switzerland. Hematopathology Section Christian-Albrechts University Kiel Germany. Royal Bournemouth and Christchurch NHS Foundation Trust Bournemouth United Kingdom. Department of Human Genetics Hannover Medical School Hannover Germany. Department of Pediatric Hematology and Oncology Justus-Liebig University Giessen and NHL-BFM Study Center Giessen Germany. Department of Pediatric Hematology and Oncology and NHL-BFM Study Center University Hospital Münster Münster Germany. Laboratory of Pathology Center for Cancer Research National Cancer Institute Bethesda MD and. Institute of Cell Biology (Cancer Research) University of Duisburg-Essen Duisburg-Essen Germany.
出 版 物:《Blood》
年 卷 期:2018年第132卷第21期
页 面:2280-2285页
学科分类:1001[医学-基础医学(可授医学、理学学位)] 10[医学]
摘 要:The notes instances of Burkitt lymphoma/leukemia (BL) with IG- rearrangement displaying a B-cell precursor immunophenotype (termed herein preBLL). To characterize the molecular pathogenesis of preBLL, we investigated 13 preBLL cases (including 1 cell line), of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA methylation profiling. In 5 patients with reads across the IG- breakpoint junctions, we found evidence that the translocation derived from an aberrant VDJ recombination, as is typical for IG translocations arising in B-cell precursors. Genomic changes like biallelic IGH translocations or VDJ rearrangements combined with translocation into the VDJ region on the second allele, potentially preventing expression of a productive immunoglobulin, were detected in 6 of 13 cases. We did not detect mutations in genes frequently altered in BL, but instead found activating and/or mutations in 7 of 12 preBLLs. Gains on 1q, recurrent in BL and preB lymphoblastic leukemia/lymphoma (pB-ALL/LBL), were detected in 7 of 12 preBLLs. DNA methylation profiling showed preBLL to cluster with precursor B cells and pB-ALL/LBL, but apart from BL. We conclude that preBLL genetically and epigenetically resembles pB-ALL/LBL rather than BL. Therefore, we propose that preBLL be considered as a pB-ALL/LBL with recurrent genetic abnormalities.