ArticleLeukemia2018
The MLL recombinome of acute leukemias in 2017.
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Article in Leukemia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 369 papers, 2 of them syntheses that pooled it.
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369citing papers in PubMed, 2 pooled it
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Who cites it
369 citing papers in PubMed, 2 syntheses or guidelines pooled it, 679 citations in OpenAlex.
- Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia.Nature medicine · 2022Pooled it
- Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.Nature communications · 2021Pooled it
- Discovery and preclinical activity of the menin-KMT2A inhibitor ziftomenib in acute leukemia models.Blood · 2026Article
- Review
- From cell lines to PDXs: in vivo confirmation of synergistic drug responses identified in leukemia cell line models.Blood neoplasia · 2026Article
- Therapeutic Advances in Adult B-cell Acute Lymphoblastic Leukemia with KMT2A Rearrangements.Annals of hematology · 2026Review
- Article
- Characterizing the impact of MLL fusion variants and fusion partners on leukemia plasticity using a human CRISPR-engineered MLL-rearranged leukemia model.Neoplasia (New York, N.Y.) · 2026Article
- Mechanism of AF9 (MLLT3)-Partner Dissociation in Mixed-Lineage Leukemia-Rearranged Leukemia.JACS Au · 2026Article
- Relationship between the distribution of LEDGF along genes and positions of HIV-1 DNA integration.mBio · 2026Article
- Multiomic analysis of clonal development reveals new regulators of leukemic cell growth.Genes & development · 2026Article
- Review
- A microRNA expression signature in infant t(4;11) KMT2A::AFF1+ BCP-ALL uncovers novel therapeutic targets.HemaSphere · 2026Article
- Identification of a novelHaematologica · 2026Article
- Chromosome Karyotyping in Hematological Malignancies: Current Status and Future Directions.Current medical science · 2026Review
- Targeted Therapy in Acute Myeloid Leukemia: Current Approaches and Novel Directions.Journal of personalized medicine · 2026Review
- Article
- Targeting the Menin-KMT2A interaction in leukemia: Lessons learned and future directions.International journal of cancer · 2026Review
- Molecularly targeted therapy and immunotherapy in leukemias.Journal of hematology & oncology · 2026Review
- AKAP95 condensates regulate transcription and can be targeted in MLL-fusion driven oncogenesis.Nature communications · 2026Article
309 more citing papers are in PubMed but not listed here.
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Authors and funding
71 authors at 20 institutions in 20 countries.
C MeyerInstitute of Pharmaceutical Biology/Diagnostic Center of Acute Leukemia (DCAL), Goethe-University, Frankfurt/Main, Germany.
T BurmeisterCharité-Department of Hematology, Oncology and Tumorimmunology, Berlin, Germany.ORCID 0000-0003-4843-2876
D GrögerCharité-Department of Hematology, Oncology and Tumorimmunology, Berlin, Germany.
G TsaurRegional Children Hospital 1, Research Institute of Medical Cell Technologies, Pediatric Oncology and Hematology Center, Ural Federal University, Ekaterinburg, Russia.
L FechinaRegional Children Hospital 1, Research Institute of Medical Cell Technologies, Pediatric Oncology and Hematology Center, Ural Federal University, Ekaterinburg, Russia.
A RennevilleLaboratory of Hematology, Biology and Pathology Center, CHRU of Lille; INSERM, UMR-S 1172, Cancer Research Institute of Lille, Lille, France.
R SuttonChildren's Cancer Institute Australia, Uinversity of NSW Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-0188-6005
N C VennChildren's Cancer Institute Australia, Uinversity of NSW Sydney, Sydney, New South Wales, Australia.
M EmerencianoPediatric Hematology-Oncology Program-Research Center, Instituto Nacional de Cancer Rio de Janeiro, Rio de Janeiro, Brazil.
M S Pombo-de-OliveiraPediatric Hematology-Oncology Program-Research Center, Instituto Nacional de Cancer Rio de Janeiro, Rio de Janeiro, Brazil.
C Barbieri BlunckPediatric Hematology-Oncology Program-Research Center, Instituto Nacional de Cancer Rio de Janeiro, Rio de Janeiro, Brazil.
B Almeida LopesPediatric Hematology-Oncology Program-Research Center, Instituto Nacional de Cancer Rio de Janeiro, Rio de Janeiro, Brazil.
J ZunaCLIP, Department of Paediatric Haematology/Oncology, Charles University Prague, 2nd Faculty of Medicine, Prague, Czech Republic.
J TrkaCLIP, Department of Paediatric Haematology/Oncology, Charles University Prague, 2nd Faculty of Medicine, 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.
M De BraekeleerUniversité de Bretagne Occidentale, Faculté de Médecine et des Sciences de la Santé, Laboratoire d'Histologie, Embryologie et Cytogénétique & INSERM-U1078, Brest, France.
G CazzanigaCentro Ricerca Tettamanti, Clinica Pediatrica Univ. Milano Bicocca, Monza, Italy.
L Corral AbascalCentro Ricerca Tettamanti, Clinica Pediatrica Univ. Milano Bicocca, Monza, Italy.
V H J van der VeldenErasmus MC, Department of Immunology, Rotterdam, The Netherlands.
E DelabesseCHU Purpan, Laboratoire d'Hématologie, Toulouse, France.
T S ParkDepartment of Laboratory Medicine, School of Medicine, Kyung Hee University, Seoul, Korea.
S H OhDepartment of Laboratory Medicine, Inje University College of Medicine, Busan, Korea.
M L M SilvaCytogenetics Department, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, Brazil.
T Lund-AhoLaboratory of Clinical Genetics, Fimlab Laboratories, Tampere, Finland.
V JuvonenDepartment of Clinical Chemistry and TYKSLAB, University of Turku and Turku University Central Hospital, Turku, Finland.
A S MooreThe University of Queensland Diamantina Institute, The University of Queensland, Brisbane, Queensland, Australia.
O HeidenreichNorthern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0001-5404-6483
J VormoorThe Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
E ZerkalenkovaDmitry Rogachev National Scientific and Practical Center of Pediatric Hematology, Oncology and Immunology, Moscow.
Y OlshanskayaDmitry Rogachev National Scientific and Practical Center of Pediatric Hematology, Oncology and Immunology, Moscow.
C BuenoJosep Carreras Leukemia Research Institute, Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, Spain.
P MenendezJosep Carreras Leukemia Research Institute, Department of Biomedicine, School of Medicine, University of Barcelona, Barcelona, Spain.
A Teigler-SchlegelDepartment of Experimental Pathology and Cytology, Institute of Pathology, Giessen, Germany.
U Zur StadtCenter for Diagnostic, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
J LentesDepartment of Human Genetics, Hannover Medical School, Hanover, Germany.
G GöhringDepartment of Human Genetics, Hannover Medical School, Hanover, Germany.
A KustanovichBelarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Republic of Belarus.
O AleinikovaBelarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Republic of Belarus.
B W SchäferDepartment of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
S KubetzkoDepartment of Oncology, University Children's Hospital Zurich, Zurich, Switzerland.
H O MadsenDepartment of Clinical Immunology, University Hospital Rigshospitalet, Copenhagen, Denmark.
B GruhnDepartment of Pediatrics, Jena University Hospital, Jena, Germany.
X DuarteDepartment of Pediatrics, Portuguese Institute of Oncology of Lisbon, Lisbon, Portugal.
P GameiroHemato-Oncology Laboratory, UIPM, Portuguese Institute of Oncology of Lisbon, Lisbon, Portugal.
E LippertHématologie Biologique, CHU de Brest and INSERM U1078, Université de Bretagne Occidentale, Brest, France.
A BidetHématologie Biologique, CHU de Brest and INSERM U1078, Université de Bretagne Occidentale, Brest, France.
J M CayuelaLaboratoire d'hématologie, AP-HP Saint-Louis, Paris Diderot University, Paris, France.
E ClappierLaboratoire d'hématologie, AP-HP Saint-Louis, Paris Diderot University, Paris, France.
C N AlonsoHospital Nacional de Pediatría Prof Dr J. P. Garrahan, Servcio de Hemato-Oncología, Buenos Aires, Argentina.
C M ZwaanDepartment of Pediatric Oncology/Hematology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.
M M van den Heuvel-EibrinkDepartment of Pediatric Oncology/Hematology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.
S IzraeliThe Chaim Sheba Medical Center, Department of Pediatric Hemato-Oncology and the Cancer Research Center, Tel Aviv, Israel.
L TrakhtenbrotThe Chaim Sheba Medical Center, Department of Pediatric Hemato-Oncology and the Cancer Research Center, Tel Aviv, Israel.
P ArcherBristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
J HancockBristol Genetics Laboratory, Pathology Sciences, Southmead Hospital, North Bristol NHS Trust, Bristol, UK.
A MörickeDepartment of Pediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany.
J AltenDepartment of Pediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany.
M SchrappeDepartment of Pediatrics, University Medical Centre Schleswig-Holstein, Kiel, Germany.
M StanullaDepartment of Pediatrics, MHH, Hanover, Germany.
S StrehlChildren's Cancer Research Institute and St Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
A AttarbaschiChildren's Cancer Research Institute and St Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
M DworzakChildren's Cancer Research Institute and St Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
O A HaasChildren's Cancer Research Institute and St Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
R Panzer-GrümayerChildren's Cancer Research Institute and St Anna Children's Hospital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
L SedékDepartment of Microbiology and Immunology, Medical University of Silesia, Zabrze, Poland.
T SzczepańskiDepartment of Pediatric Hematology and Oncology, Medical University of Silesia, Zabrze, Poland.
A CayeDepartment of Genetics, AP-HP Robert Debré, Paris Diderot University, Paris, France.
L SuarezDepartment of Genetics, AP-HP Robert Debré, Paris Diderot University, Paris, France.
H CavéDepartment of Genetics, AP-HP Robert Debré, Paris Diderot University, Paris, France.
R MarschalekInstitute of Pharmaceutical Biology/Diagnostic Center of Acute Leukemia (DCAL), Goethe-University, Frankfurt/Main, Germany.ORCID 0000-0003-4870-3445
Délégation Paris 7 · FRInstituto Nacional de Câncer - INCA · BRSt Anna Children's Hospital · ATInserm · FRUniversity Hospital Schleswig-Holstein · DEBelarusian Research Center For Pediatric Oncology and Hematology · BYCharité - Universitätsmedizin Berlin · DECharles University · CZChildren's Cancer Institute Australia · AUDmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology · RUErasmus MC - Sophia Children’s Hospital · NLGoethe University Frankfurt · DEInstitució Catalana de Recerca i Estudis Avançats · ESInstituto Português de Oncologia Francisco Gentil · PTMedical University of Silesia · PLMedizinische Hochschule Hannover · DENorth Bristol NHS Trust · GBSorbonne Université · FRTel Aviv University · ILUniversity Children's Hospital Zurich · CH
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.
Indexed as
AdultChildChromosome AberrationsChromosome BreakageFemaleGene RearrangementHistone-Lysine N-MethyltransferaseHumansInfantLeukemia, Myeloid, AcuteMaleMyeloid-Lymphoid Leukemia ProteinOncogene Proteins, FusionPrecursor Cell Lymphoblastic Leukemia-LymphomaTranslocation, GeneticHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia ProteinOncogene Proteins, Fusion
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