{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T22:11:19Z","timestamp":1790719879926,"version":"4.1.0"},"reference-count":70,"publisher":"American Society of Hematology","issue":"6","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,8,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, &amp;gt;25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid\/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells.<\/jats:p>","DOI":"10.1182\/blood.2019003062","type":"journal-article","created":{"date-parts":[[2020,4,29]],"date-time":"2020-04-29T23:48:42Z","timestamp":1588204122000},"page":"698-714","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":50,"title":["Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers"],"prefix":"10.1182","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3319-9864","authenticated-orcid":false,"given":"Alexandre","family":"Fagnan","sequence":"first","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0636-8845","authenticated-orcid":false,"given":"Frederik Otzen","family":"Bagger","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Beider Basel (UKBB), Basel, Switzerland;"},{"name":"Department of Biomedicine, University of Basel, Basel, Switzerland;"},{"name":"Center for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark;"},{"name":"Swiss Institute of Bioinformatics, Basel, Basel, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria-Riera","family":"Piqu\u00e9-Borr\u00e0s","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Beider Basel (UKBB), Basel, Switzerland;"},{"name":"Department of Biomedicine, University of Basel, Basel, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Ignacimouttou","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Caulier","sequence":"additional","affiliation":[{"name":"Equipe d'Accueil (EA) 4666, H\u00e9matopo\u00ef\u00e8se et Immunologie (HEMATIM), Universit\u00e9 de Picardie Jules Verne (UPJV), Amiens, France;"},{"name":"Service H\u00e9matologie Biologique, Centre Hospitalier Universitaire (CHU) Amiens, Amiens, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4473-6311","authenticated-orcid":false,"given":"C\u00e9cile K.","family":"Lopez","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elie","family":"Robert","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Uzan","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche 967 (UMR 967), INSERM\u2013Commissariat \u00e0 l\u2019\u00c9nergie Atomique et aux \u00c9nergies Alternatives (CEA)\/Direction de la Recherche Fondamentale (DRF)\/Institut de Biologie Fran\u00e7ois Jacob (IBFJ)\/Institut de Radiobiologie Cellulaire et Mol\u00e9culaire (IRCM)\/Laboratoire des cellules Souches H\u00e9matopo\u00ef\u00e9tiques et des Leuc\u00e9mies (LSHL)\u2013Universit\u00e9 Paris-Diderot\u2013Universit\u00e9 Paris-Sud, Fontenay-aux-Ro"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Gelsi-Boyer","sequence":"additional","affiliation":[{"name":"U1068 and"},{"name":"UMR7258, Centre de Recherche en Canc\u00e9rologie de Marseille, Centre National de la Recherche Scientifique (CNRS)\/INSERM\/Institut Paoli Calmettes\/Aix-Marseille Universit\u00e9, Marseille, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zakia","family":"Aid","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3873-5240","authenticated-orcid":false,"given":"C\u00e9cile","family":"Thirant","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Moll","sequence":"additional","affiliation":[{"name":"Institute of Molecular Oncology, University Medical Center G\u00f6ttingen, G\u00f6ttingen, Germany;"},{"name":"Department of Pathology, Stony Brook University, Stony Brook, NY;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0336-9770","authenticated-orcid":false,"given":"Samantha","family":"Tauchmann","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Beider Basel (UKBB), Basel, Switzerland;"},{"name":"Department of Biomedicine, University of Basel, Basel, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6063-7260","authenticated-orcid":false,"given":"Amina","family":"Kurtovic-Kozaric","sequence":"additional","affiliation":[{"name":"Clinical Center of the University of Sarajevo, University of Sarajevo, Sarajevo, Bosnia and Herzegovina;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaroslaw","family":"Maciejewski","sequence":"additional","affiliation":[{"name":"Department of Translational Hematology and Oncologic Research, Cleveland Clinic Taussig Cancer Institute, Cleveland, OH;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Dierks","sequence":"additional","affiliation":[{"name":"H\u00e4matologie, Onkologie und Stammzelltransplantation, Klinik f\u00fcr Innere Medizin I, Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0374-1536","authenticated-orcid":false,"given":"Orietta","family":"Spinelli","sequence":"additional","affiliation":[{"name":"UOC Ematologia, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII Hospital, Bergamo, Italy;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Salmoiraghi","sequence":"additional","affiliation":[{"name":"UOC Ematologia, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII Hospital, Bergamo, Italy;"},{"name":"FROM Research Foundation, Papa Giovanni XXIII Hospital, Bergamo, Italy;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Pabst","sequence":"additional","affiliation":[{"name":"Department of Oncology, Inselspital, University Hospital Bern\/University of Bern, Bern, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuya","family":"Shimoda","sequence":"additional","affiliation":[{"name":"Gastroenterology and Hematology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9872-1946","authenticated-orcid":false,"given":"Virginie","family":"Deleuze","sequence":"additional","affiliation":[{"name":"IGMM, University of Montpellier, CNRS, Montpellier, France;"},{"name":"Universit\u00e9 de Paris, Laboratory of Excellence GR-Ex, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Lapillonne","sequence":"additional","affiliation":[{"name":"Centre de Recherche Saint Antoine (CRSA)\u2013Unit\u00e9 INSERM, Sorbonne Universit\u00e9\/Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP)\/H\u00f4pital Trousseau, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3551-1009","authenticated-orcid":false,"given":"Connor","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Medical Research Council Molecular Haematology Unit (MRC MHU), Biomedical Research Centre (BRC) Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, Weatherall Institute of Molecular Medicine (WIMM), Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"De Mas","sequence":"additional","affiliation":[{"name":"Team 16, Hematology Laboratory, Center of Research of Cancerology of Toulouse, U1037, INSERM\/Institut Universitaire du Cancer de Toulouse (IUCT) Oncopole, Toulouse, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Betty","family":"Leite","sequence":"additional","affiliation":[{"name":"Genomic Platform, Unit\u00e9 Mixte de Service - Analyse Mol\u00e9culaire, Mod\u00e9lisation et Imagerie de la maladie Canc\u00e9reuse (UMS AMMICA), Gustave Roussy\/Universit\u00e9 Paris-Saclay, Villejuif, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahra","family":"Kadri","sequence":"additional","affiliation":[{"name":"Division of Innovative Therapies, UMR-1184, Immunologie des Maladies Virales, Auto-immunes, H\u00e9matologiques et Bact\u00e9riennes (IMVA-HB) and Infectious Disease Models and Innovative Therapies (IDMIT) Center, CEA\/INSERM\/Paris-Saclay University, Fontenay-aux-Roses, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-7778","authenticated-orcid":false,"given":"S\u00e9bastien","family":"Malinge","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Telethon Kids Institute, Perth Children\u2019s Hospital, Nedlands, WA, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8126-4942","authenticated-orcid":false,"given":"St\u00e9phane","family":"de Botton","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Micol","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Kile","sequence":"additional","affiliation":[{"name":"Australian Centre for Blood Diseases, Monash University, Melbourne, VIC, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine L.","family":"Carmichael","sequence":"additional","affiliation":[{"name":"Australian Centre for Blood Diseases, Monash University, Melbourne, VIC, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Iacobucci","sequence":"additional","affiliation":[{"name":"Department of Pathology, St. Jude Children\u2019s Research Hospital, Memphis, TN;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1871-1850","authenticated-orcid":false,"given":"Charles G.","family":"Mullighan","sequence":"additional","affiliation":[{"name":"Department of Pathology, St. Jude Children\u2019s Research Hospital, Memphis, TN;"},{"name":"Hematological Malignancies Program, St. Jude Children\u2019s Research Hospital, Memphis, TN;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Carroll","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, University of Pennsylvania, PA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0456-5095","authenticated-orcid":false,"given":"Peter","family":"Valent","sequence":"additional","affiliation":[{"name":"Division of Hematology and Hemostaseology, Department of Internal Medicine I and"},{"name":"Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier A.","family":"Bernard","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0928-0753","authenticated-orcid":false,"given":"Eric","family":"Delabesse","sequence":"additional","affiliation":[{"name":"Team 16, Hematology Laboratory, Center of Research of Cancerology of Toulouse, U1037, INSERM\/Institut Universitaire du Cancer de Toulouse (IUCT) Oncopole, Toulouse, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3931-0914","authenticated-orcid":false,"given":"Paresh","family":"Vyas","sequence":"additional","affiliation":[{"name":"Medical Research Council Molecular Haematology Unit (MRC MHU), Biomedical Research Centre (BRC) Hematology Theme, Oxford Biomedical Research Centre, Oxford Centre for Haematology, Weatherall Institute of Molecular Medicine (WIMM), Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Birnbaum","sequence":"additional","affiliation":[{"name":"U1068 and"},{"name":"UMR7258, Centre de Recherche en Canc\u00e9rologie de Marseille, Centre National de la Recherche Scientifique (CNRS)\/INSERM\/Institut Paoli Calmettes\/Aix-Marseille Universit\u00e9, Marseille, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1386-4943","authenticated-orcid":false,"given":"Eduardo","family":"Anguita","sequence":"additional","affiliation":[{"name":"Hematology Department,"},{"name":"Instituto de Medicina de Laboratorio (IML), and"},{"name":"Instituto de Investigaci\u00f3n Sanitaria San Carlos, (IdISSC), Hospital Cl\u00ednico San Carlos (HCSC), Madrid, Spain; and"},{"name":"Department of Medicine, Universidad Complutense de Madrid (UCM), Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc","family":"Gar\u00e7on","sequence":"additional","affiliation":[{"name":"Equipe d'Accueil (EA) 4666, H\u00e9matopo\u00ef\u00e8se et Immunologie (HEMATIM), Universit\u00e9 de Picardie Jules Verne (UPJV), Amiens, France;"},{"name":"Service H\u00e9matologie Biologique, Centre Hospitalier Universitaire (CHU) Amiens, Amiens, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0521-7463","authenticated-orcid":false,"given":"Eric","family":"Soler","sequence":"additional","affiliation":[{"name":"IGMM, University of Montpellier, CNRS, Montpellier, France;"},{"name":"Universit\u00e9 de Paris, Laboratory of Excellence GR-Ex, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8616-0096","authenticated-orcid":false,"given":"Juerg","family":"Schwaller","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Beider Basel (UKBB), Basel, Switzerland;"},{"name":"Department of Biomedicine, University of Basel, Basel, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1552-087X","authenticated-orcid":false,"given":"Thomas","family":"Mercher","sequence":"additional","affiliation":[{"name":"Unit\u00e9 1170 (U1170), INSERM, Gustave Roussy, Universit\u00e9 Paris Diderot, Villejuif, France;"},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer, Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"issue":"10","key":"2020080611250286100_B1","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1182\/blood-2009-09-243964","article-title":"Acute erythroid leukemia: a reassessment using criteria refined in the 2008 WHO classification","volume":"115","author":"Hasserjian","year":"2010","journal-title":"Blood"},{"issue":"1","key":"2020080611250286100_B2","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1309\/AJCPRKYAT6EZQHC7","article-title":"Acute erythroleukemias, acute megakaryoblastic leukemias, and reactive mimics: a guide to a number of perplexing entities","volume":"144","author":"Wang","year":"2015","journal-title":"Am J Clin Pathol"},{"issue":"2","key":"2020080611250286100_B3","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1016\/j.blre.2017.09.002","article-title":"Erythroleukemia-historical perspectives and recent advances in diagnosis and management","volume":"32","author":"Boddu","year":"2018","journal-title":"Blood Rev"},{"issue":"20","key":"2020080611250286100_B4","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [published correction appears in Blood. 2016;128(3):462-463]","volume":"127","author":"Arber","year":"2016","journal-title":"Blood"},{"issue":"2","key":"2020080611250286100_B5","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1097\/MOH.0000000000000314","article-title":"Revisiting erythroleukemia","volume":"24","author":"Arber","year":"2017","journal-title":"Curr Opin Hematol"},{"issue":"1","key":"2020080611250286100_B6","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1186\/s12885-017-3528-6","article-title":"An analysis of 97 previously diagnosed de novo adult acute erythroid leukemia patients following the 2016 revision to World Health Organization classification","volume":"17","author":"Qiu","year":"2017","journal-title":"BMC Cancer"},{"issue":"22","key":"2020080611250286100_B7","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1056\/NEJMoa1301689","article-title":"Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia","volume":"368","author":"Ley","year":"2013","journal-title":"N Engl J Med"},{"issue":"23","key":"2020080611250286100_B8","doi-asserted-by":"crossref","first-page":"2209","DOI":"10.1056\/NEJMoa1516192","article-title":"Genomic classification and prognosis in acute myeloid leukemia","volume":"374","author":"Papaemmanuil","year":"2016","journal-title":"N Engl J Med"},{"issue":"9","key":"2020080611250286100_B9","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1038\/leu.2013.144","article-title":"Acute erythroid leukemia (AEL) can be separated into distinct prognostic subsets based on cytogenetic and molecular genetic characteristics","volume":"27","author":"Grossmann","year":"2013","journal-title":"Leukemia"},{"issue":"4","key":"2020080611250286100_B10","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1038\/leu.2015.198","article-title":"Molecular characterization of acute erythroid leukemia (M6-AML) using targeted next-generation sequencing","volume":"30","author":"Cervera","year":"2016","journal-title":"Leukemia"},{"issue":"8","key":"2020080611250286100_B11","doi-asserted-by":"crossref","first-page":"e594","DOI":"10.1038\/bcj.2017.68","article-title":"Revisiting gene mutations and prognosis of ex-M6a-acute erythroid leukemia with regard to the new WHO classification","volume":"7","author":"Cervera","year":"2017","journal-title":"Blood Cancer J"},{"issue":"1","key":"2020080611250286100_B12","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1038\/leu.2016.162","article-title":"Exome sequencing identifies highly recurrent somatic GATA2 and CEBPA mutations in acute erythroid leukemia","volume":"31","author":"Ping","year":"2017","journal-title":"Leukemia"},{"issue":"18","key":"2020080611250286100_B13","doi-asserted-by":"crossref","first-page":"2584","DOI":"10.1182\/blood-2016-11-749903","article-title":"More than 1 TP53 abnormality is a dominant characteristic of pure erythroid leukemia","volume":"129","author":"Montalban-Bravo","year":"2017","journal-title":"Blood"},{"issue":"12","key":"2020080611250286100_B14","doi-asserted-by":"crossref","first-page":"2537","DOI":"10.1084\/jem.20102260","article-title":"Networking erythropoiesis","volume":"207","author":"Kerenyi","year":"2010","journal-title":"J Exp Med"},{"issue":"23","key":"2020080611250286100_B15","doi-asserted-by":"crossref","first-page":"3536","DOI":"10.1182\/blood-2014-11-575357","article-title":"Emerging EPO and EPO receptor regulators and signal transducers","volume":"125","author":"Kuhrt","year":"2015","journal-title":"Blood"},{"issue":"10","key":"2020080611250286100_B16","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.3324\/haematol.2018.192518","article-title":"Normal and pathological erythropoiesis in adults: from gene regulation to targeted treatment concepts","volume":"103","author":"Valent","year":"2018","journal-title":"Haematologica"},{"issue":"3","key":"2020080611250286100_B17","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1101\/gad.551810","article-title":"The genome-wide dynamics of the binding of Ldb1 complexes during erythroid differentiation","volume":"24","author":"Soler","year":"2010","journal-title":"Genes Dev"},{"issue":"22","key":"2020080611250286100_B18","doi-asserted-by":"crossref","first-page":"4575","DOI":"10.1182\/blood-2013-01-479451","article-title":"Ldb1-nucleated transcription complexes function as primary mediators of global erythroid gene activation","volume":"121","author":"Li","year":"2013","journal-title":"Blood"},{"issue":"7","key":"2020080611250286100_B19","doi-asserted-by":"crossref","first-page":"e0180922","DOI":"10.1371\/journal.pone.0180922","article-title":"Direct targets of pSTAT5 signalling in erythropoiesis","volume":"12","author":"Gillinder","year":"2017","journal-title":"PLoS One"},{"key":"2020080611250286100_B20","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.exphem.2017.03.004","article-title":"Epo reprograms the epigenome of erythroid cells","volume":"51","author":"Perreault","year":"2017","journal-title":"Exp Hematol"},{"issue":"6","key":"2020080611250286100_B21","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1097\/MOH.0b013e328358f92e","article-title":"Blood group phenotypes resulting from mutations in erythroid transcription factors","volume":"19","author":"Singleton","year":"2012","journal-title":"Curr Opin Hematol"},{"issue":"1","key":"2020080611250286100_B22","first-page":"41","article-title":"Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature","volume":"4","author":"Doshi","year":"2014","journal-title":"Am J Blood Res"},{"issue":"15","key":"2020080611250286100_B23","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1182\/blood-2016-09-687889","article-title":"GATA factor mutations in hematologic disease","volume":"129","author":"Crispino","year":"2017","journal-title":"Blood"},{"issue":"4","key":"2020080611250286100_B24","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1038\/leu.2012.266","article-title":"High-throughput sequencing identifies an NFIA\/CBFA2T3 fusion gene in acute erythroid leukemia with t(1;16)(p31;q24)","volume":"27","author":"Micci","year":"2013","journal-title":"Leukemia"},{"issue":"12","key":"2020080611250286100_B25","doi-asserted-by":"crossref","first-page":"2454","DOI":"10.1182\/blood-2012-03-420489","article-title":"Revised international prognostic scoring system for myelodysplastic syndromes","volume":"120","author":"Greenberg","year":"2012","journal-title":"Blood"},{"issue":"7560","key":"2020080611250286100_B26","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/nature14430","article-title":"Improving survival by exploiting tumour dependence on stabilized mutant p53 for treatment [published correction appears in Nature. 2015;527(7578):398]","volume":"523","author":"Alexandrova","year":"2015","journal-title":"Nature"},{"issue":"1","key":"2020080611250286100_B27","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ccr.2011.06.003","article-title":"TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis","volume":"20","author":"Quivoron","year":"2011","journal-title":"Cancer Cell"},{"issue":"6","key":"2020080611250286100_B28","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/ng1566","article-title":"Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1","volume":"37","author":"Li","year":"2005","journal-title":"Nat Genet"},{"issue":"3","key":"2020080611250286100_B29","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1128\/MCB.17.3.1642","article-title":"Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line","volume":"17","author":"Weiss","year":"1997","journal-title":"Mol Cell Biol"},{"issue":"9","key":"2020080611250286100_B30","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1158\/2159-8290.CD-14-0104","article-title":"Acquired initiating mutations in early hematopoietic cells of CLL patients","volume":"4","author":"Damm","year":"2014","journal-title":"Cancer Discov"},{"issue":"1","key":"2020080611250286100_B31","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13073-018-0531-8","article-title":"Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations","volume":"10","author":"Tamborero","year":"2018","journal-title":"Genome Med"},{"key":"2020080611250286100_B32","doi-asserted-by":"crossref","first-page":"21.29.1","DOI":"10.1002\/0471142727.mb2129s109","article-title":"ATAC-seq: a method for assaying chromatin accessibility genome-wide","volume":"109","author":"Buenrostro","year":"2015","journal-title":"Curr Protoc Mol Biol"},{"issue":"2","key":"2020080611250286100_B33","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.cell.2011.01.004","article-title":"Densely interconnected transcriptional circuits control cell states in human hematopoiesis","volume":"144","author":"Novershtern","year":"2011","journal-title":"Cell"},{"issue":"7","key":"2020080611250286100_B34","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res"},{"issue":"1","key":"2020080611250286100_B35","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13072-018-0195-z","article-title":"Establishment of regulatory elements during erythro-megakaryopoiesis identifies hematopoietic lineage-commitment points","volume":"11","author":"Heuston","year":"2018","journal-title":"Epigenetics Chromatin"},{"issue":"4","key":"2020080611250286100_B36","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1038\/s41588-019-0375-1","article-title":"Genomic subtyping and therapeutic targeting of acute erythroleukemia","volume":"51","author":"Iacobucci","year":"2019","journal-title":"Nat Genet"},{"issue":"1","key":"2020080611250286100_B37","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1186\/s13059-017-1349-1","article-title":"xCell: digitally portraying the tissue cellular heterogeneity landscape","volume":"18","author":"Aran","year":"2017","journal-title":"Genome Biol"},{"issue":"13","key":"2020080611250286100_B38","doi-asserted-by":"crossref","first-page":"e96","DOI":"10.1182\/blood-2010-07-290825","article-title":"Global gene expression analysis of human erythroid progenitors","volume":"117","author":"Merryweather-Clarke","year":"2011","journal-title":"Blood"},{"issue":"8","key":"2020080611250286100_B39","doi-asserted-by":"crossref","first-page":"2158","DOI":"10.1039\/C4MB00663A","article-title":"Mutated genes and driver pathways involved in myelodysplastic syndromes\u2014a transcriptome sequencing based approach","volume":"11","author":"Liu","year":"2015","journal-title":"Mol Biosyst"},{"issue":"5","key":"2020080611250286100_B40","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1038\/leu.2014.331","article-title":"Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells [published correction appears in Leukemia. 2015;29(8):1798]","volume":"29","author":"Dolatshad","year":"2015","journal-title":"Leukemia"},{"issue":"5","key":"2020080611250286100_B41","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1016\/j.cell.2016.10.026","article-title":"Genetic drivers of epigenetic and transcriptional variation in human immune cells","volume":"167","author":"Chen","year":"2016","journal-title":"Cell"},{"issue":"14","key":"2020080611250286100_B42","doi-asserted-by":"crossref","first-page":"2233","DOI":"10.1093\/bioinformatics\/btw216","article-title":"ARACNe-AP: gene network reverse engineering through adaptive partitioning inference of mutual information","volume":"32","author":"Lachmann","year":"2016","journal-title":"Bioinformatics"},{"issue":"8","key":"2020080611250286100_B43","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.3593","article-title":"Functional characterization of somatic mutations in cancer using network-based inference of protein activity","volume":"48","author":"Alvarez","year":"2016","journal-title":"Nat Genet"},{"key":"2020080611250286100_B44","doi-asserted-by":"crossref","first-page":"6042","DOI":"10.1038\/ncomms7042","article-title":"Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome","volume":"6","author":"Madan","year":"2015","journal-title":"Nat Commun"},{"issue":"4","key":"2020080611250286100_B45","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/ncb3493","article-title":"Human haematopoietic stem cell lineage commitment is a continuous process","volume":"19","author":"Velten","year":"2017","journal-title":"Nat Cell Biol"},{"issue":"8","key":"2020080611250286100_B46","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0301-472X(01)00670-1","article-title":"Enforced expression of the GATA-3 transcription factor affects cell fate decisions in hematopoiesis","volume":"29","author":"Chen","year":"2001","journal-title":"Exp Hematol"},{"issue":"12","key":"2020080611250286100_B47","first-page":"3221","article-title":"Transformation of chicken bone marrow cells by the v-ski oncogene","volume":"8","author":"Larsen","year":"1993","journal-title":"Oncogene"},{"issue":"23","key":"2020080611250286100_B48","doi-asserted-by":"crossref","first-page":"10118","DOI":"10.1128\/MCB.24.23.10118-10125.2004","article-title":"Ski negatively regulates erythroid differentiation through its interaction with GATA1","volume":"24","author":"Ueki","year":"2004","journal-title":"Mol Cell Biol"},{"issue":"4","key":"2020080611250286100_B49","doi-asserted-by":"crossref","first-page":"647","DOI":"10.3324\/haematol.2013.093971","article-title":"The SKI proto-oncogene enhances the in vivo repopulation of hematopoietic stem cells and causes myeloproliferative disease","volume":"99","author":"Singbrant","year":"2014","journal-title":"Haematologica"},{"issue":"21","key":"2020080611250286100_B50","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1182\/blood-2018-06-860890","article-title":"SKI controls MDS-associated chronic TGF-\u03b2 signaling, aberrant splicing, and stem cell fitness","volume":"132","author":"Muench","year":"2018","journal-title":"Blood"},{"issue":"13","key":"2020080611250286100_B51","doi-asserted-by":"crossref","first-page":"11242","DOI":"10.18632\/oncotarget.3593","article-title":"New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma","volume":"6","author":"Costa","year":"2015","journal-title":"Oncotarget"},{"issue":"6057","key":"2020080611250286100_B52","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1126\/science.1207306","article-title":"Global DNA demethylation during mouse erythropoiesis in vivo","volume":"334","author":"Shearstone","year":"2011","journal-title":"Science"},{"issue":"7","key":"2020080611250286100_B53","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1038\/ng1825","article-title":"An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis","volume":"38","author":"Hollanda","year":"2006","journal-title":"Nat Genet"},{"issue":"6","key":"2020080611250286100_B54","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1128\/MCB.01061-13","article-title":"TET2 plays an essential role in erythropoiesis by regulating lineage-specific genes via DNA oxidative demethylation in a zebrafish model","volume":"34","author":"Ge","year":"2014","journal-title":"Mol Cell Biol"},{"issue":"9","key":"2020080611250286100_B55","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1038\/ng.3610","article-title":"DNMT3A and TET2 compete and cooperate to repress lineage-specific transcription factors in hematopoietic stem cells","volume":"48","author":"Zhang","year":"2016","journal-title":"Nat Genet"},{"issue":"14","key":"2020080611250286100_B56","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1182\/blood-2016-08-736587","article-title":"Distinct roles for TET family proteins in regulating human erythropoiesis","volume":"129","author":"Yan","year":"2017","journal-title":"Blood"},{"issue":"1","key":"2020080611250286100_B57","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ccr.2011.06.001","article-title":"Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation","volume":"20","author":"Moran-Crusio","year":"2011","journal-title":"Cancer Cell"},{"issue":"26","key":"2020080611250286100_B58","doi-asserted-by":"crossref","first-page":"7079","DOI":"10.1182\/blood-2010-12-317990","article-title":"ERG promotes T-acute lymphoblastic leukemia and is transcriptionally regulated in leukemic cells by a stem cell enhancer","volume":"117","author":"Thoms","year":"2011","journal-title":"Blood"},{"issue":"38","key":"2020080611250286100_B59","doi-asserted-by":"crossref","first-page":"15437","DOI":"10.1073\/pnas.1213454109","article-title":"Hematopoietic overexpression of the transcription factor Erg induces lymphoid and erythro-megakaryocytic leukemia","volume":"109","author":"Carmichael","year":"2012","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"2020080611250286100_B60","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/j.ccr.2005.11.009","article-title":"Kit-activating mutations cooperate with Spi-1\/PU.1 overexpression to promote tumorigenic progression during erythroleukemia in mice","volume":"8","author":"Kosmider","year":"2005","journal-title":"Cancer Cell"},{"issue":"suppl 1","key":"2020080611250286100_B61","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1182\/blood-2019-129940","article-title":"Novel molecular pathogenesis and therapeutic target in acute erythroid leukemia [abstract]","volume":"134","author":"Takeda","year":"2019","journal-title":"Blood"},{"key":"2020080611250286100_B62","article-title":"Gains of EPOR and ERG genes in adult erythroleukaemia","author":"Ad\u00e9la\u00efde","year":"","journal-title":"Br J Haematol"},{"issue":"7","key":"2020080611250286100_B63","doi-asserted-by":"crossref","first-page":"3007","DOI":"10.1182\/blood-2006-03-006718","article-title":"Spi-1\/PU.1 participates in erythroleukemogenesis by inhibiting apoptosis in cooperation with Epo signaling and by blocking erythroid differentiation","volume":"109","author":"Rimmel\u00e9","year":"2007","journal-title":"Blood"},{"issue":"6","key":"2020080611250286100_B64","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1158\/2159-8290.CD-18-1138","article-title":"Cytokine-regulated phosphorylation and activation of TET2 by JAK2 in hematopoiesis","volume":"9","author":"Jeong","year":"2019","journal-title":"Cancer Discov"},{"issue":"4","key":"2020080611250286100_B65","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1182\/blood-2009-10-248047","article-title":"Dimer-tetramer transition controls RUNX1\/ETO leukemogenic activity","volume":"116","author":"Wichmann","year":"2010","journal-title":"Blood"},{"issue":"3","key":"2020080611250286100_B66","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.ccell.2017.02.006","article-title":"ETO2-GLIS2 hijacks transcriptional complexes to drive cellular identity and self-renewal in pediatric acute megakaryoblastic leukemia","volume":"31","author":"Thirant","year":"2017","journal-title":"Cancer Cell"},{"issue":"1","key":"2020080611250286100_B67","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1128\/MCB.00806-15","article-title":"Genome-wide organization of GATA1 and TAL1 determined at high resolution","volume":"36","author":"Han","year":"2015","journal-title":"Mol Cell Biol"},{"issue":"11","key":"2020080611250286100_B68","doi-asserted-by":"crossref","first-page":"3145","DOI":"10.1093\/emboj\/16.11.3145","article-title":"The LIM-only protein Lmo2 is a bridging molecule assembling an erythroid, DNA-binding complex which includes the TAL1, E47, GATA-1 and Ldb1\/NLI proteins","volume":"16","author":"Wadman","year":"1997","journal-title":"EMBO J"},{"issue":"1","key":"2020080611250286100_B69","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0092-8674(00)80318-9","article-title":"FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation","volume":"90","author":"Tsang","year":"1997","journal-title":"Cell"},{"issue":"23","key":"2020080611250286100_B70","doi-asserted-by":"crossref","first-page":"10235","DOI":"10.1128\/MCB.25.23.10235-10250.2005","article-title":"ETO-2 associates with SCL in erythroid cells and megakaryocytes and provides repressor functions in erythropoiesis","volume":"25","author":"Schuh","year":"2005","journal-title":"Mol Cell Biol"}],"container-title":["Blood"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/136\/6\/698\/1750786\/bloodbld2019003062.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/ashpublications.org\/blood\/article-pdf\/136\/6\/698\/1750786\/bloodbld2019003062.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,22]],"date-time":"2022-10-22T12:39:27Z","timestamp":1666442367000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/blood\/article\/136\/6\/698\/454702\/Human-erythroleukemia-genetics-and-transcriptomes"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,6]]},"references-count":70,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,8,6]]}},"URL":"https:\/\/doi.org\/10.1182\/blood.2019003062","relation":{},"ISSN":["0006-4971","1528-0020"],"issn-type":[{"value":"0006-4971","type":"print"},{"value":"1528-0020","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,6]]}}}