ArticleLeukemia2023
The KMT2A recombinome of acute leukemias in 2023.
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Article in Leukemia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 158 papers, 1 of them a synthesis that pooled it.
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158citing papers in PubMed, 1 pooled it
58.1field-weighted citation impact, top 1% of its field
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Who cites it
158 citing papers in PubMed, 1 synthesis or guideline pooled it, 201 citations in OpenAlex.
- Molecular Landscape of Acute Myeloid Leukemia in Pediatric Patient-Age-Related Correlations: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- Bortezomib and vorinostat in combination with mitoxantrone, dexamethasone, and pegasparaginase during induction and reinduction for infants with acute lymphoblastic leukaemia: a multicentre single-arm phase 1/2 study.The Lancet. Haematology · 2026Trial
- Targeting IMPDH to inhibit SAMHD1 inCell cycle (Georgetown, Tex.) · 2026Article
- MLL-AF9 expression levels do not instruct lineage fate.Haematologica · 2026Article
- Is the adult EBMT risk score valid and relevant for hematopoietic stem cell transplantation in children acute leukemia?Bone marrow transplantation · 2026Article
- Condensates in fusion oncoprotein-driven leukemia: new biology and therapeutic opportunities.Trends in cancer · 2026Review
- Plasticity under pressure: biology and detection of lineage switch in acute leukemia.Leukemia · 2026Review
- Menin Inhibitors in Acute Myeloid Leukemia: Clinical Integration, Resistance, and the Path Beyond Monotherapy.Cancers · 2026Review
- Clinicomolecular features and clonal evolution of KMT2A-PTD AML: prognostic impact of concurrent FLT3-ITD under 2022 ELN risk stratification.Blood cancer journal · 2026Article
- A New Paradigm for Pediatric AML: Improving the Pipeline for Treatments Targeting Cytogenetic and Molecular Alterations.Cancers · 2026Review
- Modeling KRAS mutations in KMT2A::MLLT3 acute myeloid leukemia promotes leukemic progression and transcriptional rewiring.Leukemia · 2026Article
- A Case of Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR) with Immunophenotypic Features Suggestive of B/Myeloid Mixed-Phenotype Acute Leukemia (MPAL), Harboring MultipleInternational journal of molecular sciences · 2026Article
- Menin inhibitors as a treatment for acute leukemia: from bench to the clinic.Blood neoplasia · 2026Review
- Characteristics and Prognostic Implications in Newly Diagnosed KMT2Ar AML: A Multicenter Study of the ECLA Group.American journal of hematology · 2026Article
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- Clinical implications of RAS mutations in AML: prognostic significance is based upon the involved gene and mutation complexity.Blood advances · 2026Article
- Combining menin and MEK inhibition to target poor prognosis KMT2A-rearranged RAS pathway-mutant acute myeloid leukemia.Blood advances · 2026Article
- Epigenetic Regulation in Acute Myeloid Leukemia: Molecular Mechanisms and Clinical Implications.Cancers · 2026Review
98 more citing papers are in PubMed but not listed here.
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Authors and funding
68 authors at 20 institutions in 20 countries.
C MeyerDCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany.
P LargheroDCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany.
B Almeida LopesDCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany.ORCID 0000-0003-1072-470X
T BurmeisterCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Dept. of Hematology, Oncology and Tumor Immunology, Berlin, Germany.ORCID 0000-0003-4843-2876
D GrögerCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Dept. of Hematology, Oncology and Tumor Immunology, Berlin, Germany.
R SuttonMolecular Diagnostics, Children's Cancer Institute, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia.ORCID 0000-0002-0188-6005
N C VennMolecular Diagnostics, Children's Cancer Institute, Lowy Cancer Research Centre, UNSW, Sydney, NSW, Australia.
G CazzanigaTettamanti Research Center, Pediatrics, University of Milano-Bicocca/Fondazione Tettamanti, Monza, Italy.
L Corral AbascalTettamanti Research Center, Pediatrics, University of Milano-Bicocca/Fondazione Tettamanti, Monza, Italy.
G TsaurRegional Children's Hospital, Ekaterinburg, Russian Federation; Research Institute of Medical Cell Technologies, Ekaterinburg, Russian Federation.
L FechinaRegional Children's Hospital, Ekaterinburg, Russian Federation; Research Institute of Medical Cell Technologies, Ekaterinburg, Russian Federation.
M EmerencianoInstituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil.ORCID 0000-0003-2337-8420
M S Pombo-de-OliveiraInstituto Nacional de Câncer (INCA), Rio de Janeiro, RJ, Brazil.ORCID 0000-0002-1507-004X
T Lund-AhoLaboratory of Clinical Genetics, Fimlab Laboratories, Tampere, Finland.
T LundánDepartment of Clinical Chemistry and Laboratory Division, University of Turku and Turku University Hospital, Turku, Finland.
M MontonenDepartment of Clinical Chemistry and Laboratory Division, University of Turku and Turku University Hospital, Turku, Finland.
V JuvonenDepartment of Clinical Chemistry and Laboratory Division, University of Turku and Turku University Hospital, Turku, Finland.
J ZunaCLIP, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.ORCID 0000-0002-0887-3709
J TrkaCLIP, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
P BalleriniBiological Hematology, AP-HP A. Trousseau, Pierre et Marie Curie University, Paris, France.
H LapillonneBiological Hematology, AP-HP A. Trousseau, Pierre et Marie Curie University, Paris, France.
V H J Van der VeldenDepartment of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0001-9457-3763
E SonneveldPrincess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
E DelabesseInstitut Universitaire du Cancer de Toulouse, Toulouse Cedex 9, France.
R R C de MatosCytogenetics Department, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, Brazil.ORCID 0000-0002-8737-1669
M L M SilvaCytogenetics Department, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, Brazil.ORCID 0000-0003-2549-1320
S BomkenWolfson Childhood Cancer Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.ORCID 0000-0001-9163-5738
K KatsibardiDivision of Pediatric Hematology-Oncology, First Department of Pediatrics, National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Athens, Greece.
M KeernikGenetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.
N GrardelDepartment of Hematology, CHU Lille, France.
J MasonNorthern Institute for Cancer Research, Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham, United Kingdom.
R PriceNorthern Institute for Cancer Research, Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham, United Kingdom.
J KimDCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany.
C EckertCharité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Oncology/Hematology, Berlin, Germany.
L Lo NigroCentro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico", Catania, Italy.
C BuenoJosep Carreras Leukemia Research Institute. Barcelona, Spanish Network for Advanced Therapies (RICORS-TERAV, ISCIII); Spanish Collaborative Cancer Network (CIBERONC. ISCIII); University of Barcelona, Barcelona, Spain.
P MenendezCentro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico", Catania, Italy.
U Zur StadtPediatric Hematology and Oncology and CoALL Study Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
P GameiroInstituto Português de Oncologia, Departament of Hematology, Lisbon, Portugal.
L SedékDepartment of Pediatric Hematology and Oncology, Medical University of Silesia, Zabrze, Poland.
T SzczepańskiDepartment of Pediatric Hematology and Oncology, Medical University of Silesia, Zabrze, Poland.
A BidetLaboratoire d'Hématologie Biologique, CHU Bordeaux, Bordeaux, France.ORCID 0000-0003-0992-8377
V MarcuHematology Laboratory, Sheba Medical Center, Tel-Hashomer, Israel.
K ShichrurMolecular Oncology Laboratory, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
S IzraeliPediatric Hematology-Oncology, Schneider Children's Medical Center, Petah Tikva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
H O MadsenDepartment of Clinical Immunology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
B W SchäferDivision of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.ORCID 0000-0001-5988-2915
S KubetzkoDivision of Oncology and Children's Research Centre, University Children's Hospital Zurich, Zurich, Switzerland.
R KimHematology Laboratory, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.ORCID 0000-0002-9987-7237
E ClappierHematology Laboratory, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
H TrautmannLaboratory for Specialized Hematological Diagnostics, Medical Department II, University Hospital Schleswig-Holstein, Kiel, Germany.ORCID 0000-0002-9000-4747
M BrüggemannLaboratory for Specialized Hematological Diagnostics, Medical Department II, University Hospital Schleswig-Holstein, Kiel, Germany.
P ArcherBristol Genetics Laboratory, North Bristol NHS Trust, Bristol, United Kingdom.
J HancockBristol Genetics Laboratory, North Bristol NHS Trust, Bristol, United Kingdom.
J AltenDepartment of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.
A MörickeDepartment of Pediatrics, University Hospital Schleswig-Holstein, Kiel, Germany.
M StanullaDepartment of Pediatrics, MHH, Hanover, Germany.ORCID 0000-0002-3834-0727
J LentesInstitute of Human Genetics, Medical School Hannover, Hannover, Germany.
A K BergmannInstitute of Human Genetics, Medical School Hannover, Hannover, Germany.
S StrehlSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.ORCID 0000-0002-0179-0628
S KöhrerSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
K NebralSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
M N DworzakSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
O A HaasSt. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.ORCID 0000-0001-7334-454X
C ArfeuilleGenetics Department, AP-HP, Hopital Robert Debré, Paris, France.
A Caye-EudeGenetics Department, AP-HP, Hopital Robert Debré, Paris, France.ORCID 0000-0001-5996-3037
H CavéGenetics Department, AP-HP, Hopital Robert Debré, Paris, France.ORCID 0000-0003-2840-1511
R MarschalekDCAL/Institute of Pharm. Biology, Goethe-University, Frankfurt/Main, Germany. Rolf.Marschalek@em.uni-frankfurt.de.ORCID 0000-0003-4870-3445
Goethe University Frankfurt · DESt Anna Children's Hospital · ATInstituto Nacional de Câncer - INCA · BRUniversity Hospital Schleswig-Holstein · DEHumboldt-Universität zu Berlin · DEUniversity of Turku · FIBirmingham Women’s and Children’s NHS Foundation Trust · GBCancer Institute of New South Wales · AUCentre National de la Recherche Scientifique · FRCharles University · CZInserm · FRInstitute of Medical Cell Technologies · RUMedical University of Silesia · PLNorth Bristol NHS Trust · GBPoliclinico Universitario di Catania · ITSorbonne Université · FRUniversity Children's Hospital Zurich · CHUniversity of Milano-Bicocca · ITAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Bordeaux · FR
Funding
Medical Research Council MR/S021590/1
Abstract
Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. Genomic breakpoints within the KMT2A gene and the involved translocation partner genes (TPGs) and KMT2A-partial tandem duplications (PTDs) were determined. Including the published data from the literature, a total of 107 in-frame KMT2A gene fusions have been identified so far. Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion, and one ETV6::RUNX1 patient had an KMT2A insertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 90% of all recombinations of the KMT2A, 37 occur recurrently and 63 were identified so far only once. This study provides a comprehensive analysis of the KMT2A recombinome in acute leukemia patients. Besides the scientific gain of information, genomic breakpoint sequences of these patients were used to monitor minimal residual disease (MRD). Thus, this work may be directly translated from the bench to the bedside of patients and meet the clinical needs to improve patient survival.
Indexed as
Histone-Lysine N-MethyltransferaseLeukemia, Myeloid, AcuteMyeloid-Lymphoid Leukemia ProteinPrecursor Cell Lymphoblastic Leukemia-LymphomaAdolescentAdultAgedChildChild, PreschoolGene FusionHumansInfantMiddle AgedHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia Protein
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