ArticleNature genetics2019
Genomic subtyping and therapeutic targeting of acute erythroleukemia.
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Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
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97citing papers in PubMed
13.6field-weighted citation impact, top 1% of its field
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Who cites it
97 citing papers in PubMed, 165 citations in OpenAlex.
- Immunophenotypic, Cytogenetic, and Molecular Characterization of NUP98-Rearranged Pediatric Myeloid Neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026Article
- Development and Characterization of a Novel Congenital Acute Erythroid Leukemia Cell Line with Unique Features.Cancers · 2026Article
- C-C motif chemokine receptor-like 2 promotes the interferon-γ signaling response in myeloid neoplasms with erythroid differentiation and mutatedHaematologica · 2026Article
- CanID: A Robust and Accurate RNA-seq Expression-based Diagnostic Classification Scheme for Pediatric Malignancies.Genomics, proteomics & bioinformatics · 2025Article
- Fusion oncoproteins and cooperating mutations define disease phenotypes in NUP98-rearranged leukemia.Blood · 2025Article
- KAT6A and KAT7 Histone Acetyltransferase Complexes Are Molecular Dependencies and Therapeutic Targets in NUP98-Rearranged Acute Myeloid Leukemia.Cancer discovery · 2025Article
- Article
- Erythroid-predominant myelodysplastic neoplasms exhibit a distinct genomic landscape with poor outcomes after venetoclax-based therapy.Leukemia · 2025Article
- Enhancer Hijacking Discovery in Acute Myeloid Leukemia by Pyjacker Identifies MNX1 Activation via Deletion 7q.Blood cancer discovery · 2025Article
- Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.Blood cancer discovery · 2025Article
- Successful treatment of multi-hit TP53-mutated myelodysplastic syndromes with erythroid predominance using allogeneic stem cell transplantation and ruxolitinib.Annals of hematology · 2025Article
- Rare Genetic and Uncommon Morphological Entities in Adults with Acute Myeloid Leukemia.Current oncology reports · 2025Review
- Harnessing Artificial Intelligence in Pediatric Oncology Diagnosis and Treatment: A Review.Cancers · 2025Review
- Novel Mutations in Acute Erythroid Leukemia-A Case Report with Review of Literature.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2025Article
- Promising activity of Selinexor in the treatment of a patient with refractory NUP98-NSD1+/FLT3-ITD + acute myeloid leukemia.Annals of hematology · 2025Article
- [Clinical characteristics and prognosis of acute erythroleukemia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Diagnostic approach to blastic plasmacytoid dendritic cell neoplasm: historical perspectives and current understanding.Journal of clinical and experimental hematopathology : JCEH · 2025Review
- Article
- From regulation to deregulation of p53 in hematologic malignancies: implications for diagnosis, prognosis and therapy.Biomarker research · 2024Review
- Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia.European journal of medical research · 2024Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
48 authors at 16 institutions in 6 countries.
Ilaria IacobucciDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Ji WenDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Manja MeggendorferMLL Munich Leukemia Laboratory, Munich, Germany.
John K ChoiDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Lei ShiDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Stanley B PoundsDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-9167-2114
Catherine L CarmichaelThe Australian Centre for Blood Diseases, Monash University, Melbourne, Victoria, Australia.
Katherine E MasihDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-0809-668X
Sarah M MorrisDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
R Coleman LindsleyDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Laura J JankeDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Thomas B AlexanderDepartment of Oncology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-0484-1574
Guangchun SongDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Chunxu QuDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Yongjin LiDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Debbie Payne-TurnerDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Daisuke TomizawaDivision of Leukemia and Lymphoma, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1520-7007
Nobutaka KiyokawaDepartment of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Marcus ValentineCytogenetics Shared Resource, St. Jude Children's Research Hospital, Memphis, TN, USA.
Virginia ValentineCytogenetics Shared Resource, St. Jude Children's Research Hospital, Memphis, TN, USA.
Giuseppe BassoClinic of Paediatric Haematology and Oncology, Department for Children's and Women's Health, University of Padua, Padua, Italy.
Franco LocatelliDepartment of Gynecology/Obstetrics and Pediatrics, Sapienza University of Rome, Rome, Italy.
Eric J EnemarkDepartment of Structural Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Shirley K Y KhamCentre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
Allen E J YeohCentre for Translational Research in Acute Leukaemia, Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.ORCID http://orcid.org/0000-0002-6454-976X
Xiaotu MaDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Xin ZhouDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Edgar SiosonDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Michael RuschDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID http://orcid.org/0000-0002-5363-1848
Rhonda E RiesFred Hutchinson Cancer Research Center, Seattle, WA, USA.
Elliot StieglitzDepartment of Pediatrics, Benioff Children's Hospital, and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0001-7032-4623
Stephen P HungerDivision of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Andrew H WeiThe Australian Centre for Blood Diseases, Monash University, Melbourne, Victoria, Australia.
L Bik ToDepartments of Haematology, SA Pathology and Royal Adelaide Hospital, Adelaide, South Australia, Australia.
Ian D LewisFaculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia.
Richard J D'AndreaCentre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.
Benjamin T KileThe Walter & Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Anna L BrownCentre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.
Hamish S ScottCentre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.ORCID http://orcid.org/0000-0002-5813-631X
Christopher N HahnCentre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, South Australia, Australia.
Paula MarltonPrincess Alexandra Hospital and University of Queensland School of Clinical Medicine, Brisbane, Queensland, Australia.
Deqing PeiDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Cheng ChengDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
Mignon L LohDepartment of Pediatrics, Benioff Children's Hospital, and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA, USA.
Benjamin L EbertDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Soheil MeshinchiFred Hutchinson Cancer Research Center, Seattle, WA, USA.
Torsten HaferlachMLL Munich Leukemia Laboratory, Munich, Germany.
Charles G MullighanDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA. charles.mullighan@stjude.org.ORCID http://orcid.org/0000-0002-1871-1850
St. Jude Children's Research Hospital · USSouth Australia Pathology · AUDana-Farber Cancer Institute · USFred Hutch Cancer Center · USMunich Leukemia Laboratory (Germany) · DENational Center For Child Health and Development · JPNational University of Singapore · SGUniversity of California, San Francisco · USAustralian Centre for HIV and Hepatitis Virology Research · AUBambino Gesù Children's Hospital · ITChildren's Hospital of Philadelphia · USThe Alfred Hospital · AUThe University of Adelaide · AUThe University of Queensland · AUUniversity of Padua · ITWalter and Eliza Hall Institute of Medical Research · AU
Funding
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9MTYROSINE KINASE ONCOGENESIS IN MYELOID LEUKEMIAP01CA066996 · NCI · DANA-FARBER CANCER INSTITUTE · PI SCOTT A ARMSTRONG · 1996 to 2026
$52.5MLeveraging innovative technologies in basic and clinical cancer researchT32CA009302 · NCI · STANFORD UNIVERSITY · PI LAURA D ATTARDI, Aaron M Newman · 1985 to 2026
$19.1MTranslating genomic discoveries to improved outcomes for high risk acute leukemiaR35CA197695 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI Charles G Mullighan · 2017 to 2026
$11.4MPROFESSIONAL ONCOLOGY EDUCATION PROGRAMR25CA023944 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI SUZANNE A. GRONEMEYER · 1986 to 2026
$8.3MResearch Training in Childhood CancerT32CA128583 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Eric Alejandro Sweet-Cordero · 2007 to 2026
$6.0MNCI NIH HHS P01 CA066996NCI NIH HHS P30 CA021765NCI NIH HHS R25 CA023944NCI NIH HHS R35 CA197695NCI NIH HHS T32 CA009302NCI NIH HHS T32 CA128583
Abstract
Acute erythroid leukemia (AEL) is a high-risk leukemia of poorly understood genetic basis, with controversy regarding diagnosis in the spectrum of myelodysplasia and myeloid leukemia. We compared genomic features of 159 childhood and adult AEL cases with non-AEL myeloid disorders and defined five age-related subgroups with distinct transcriptional profiles: adult, TP53 mutated; NPM1 mutated; KMT2A mutated/rearranged; adult, DDX41 mutated; and pediatric, NUP98 rearranged. Genomic features influenced outcome, with NPM1 mutations and HOXB9 overexpression being associated with a favorable prognosis and TP53, FLT3 or RB1 alterations associated with poor survival. Targetable signaling mutations were present in 45% of cases and included recurrent mutations of ALK and NTRK1, the latter of which drives erythroid leukemogenesis sensitive to TRK inhibition. This genomic landscape of AEL provides the framework for accurate diagnosis and risk stratification of this disease, and the rationale for testing targeted therapies in this high-risk leukemia.
Indexed as
AdolescentAdultChildChild, PreschoolFemalefms-Like Tyrosine Kinase 3GenomicsHomeodomain ProteinsHumansInfantInfant, NewbornLeukemia, Erythroblastic, AcuteMaleMutationMyeloid-Lymphoid Leukemia ProteinNuclear Proteinsfms-Like Tyrosine Kinase 3Homeodomain ProteinsMyeloid-Lymphoid Leukemia ProteinNPM1 protein, humanNuclear ProteinsNucleophosminTumor Suppressor Protein p53
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