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The KMT2A recombinome of acute leukemias in 2023
C. Meyer, P. Larghero, B. Almeida Lopes, T. Burmeister, D. Gröger, R. Sutton, NC. Venn, G. Cazzaniga, L. Corral Abascal, G. Tsaur, L. Fechina, M. Emerenciano, MS. Pombo-de-Oliveira, T. Lund-Aho, T. Lundán, M. Montonen, V. Juvonen, J. Zuna, J....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
ProQuest Central
od 2000-01-01 do Před 1 rokem
Open Access Digital Library
od 1997-01-01
Nursing & Allied Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
Health & Medicine (ProQuest)
od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest)
od 2000-01-01 do Před 1 rokem
- MeSH
- akutní lymfatická leukemie * genetika MeSH
- akutní myeloidní leukemie * genetika MeSH
- dítě MeSH
- dospělí MeSH
- fúze genů MeSH
- histonlysin-N-methyltransferasa * genetika MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- protoonkogenní protein MLL * genetika MeSH
- senioři MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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.
Biological Hematology AP HP A Trousseau Pierre et Marie Curie University Paris France
Bristol Genetics Laboratory North Bristol NHS Trust Bristol United Kingdom
DCAL Institute of Pharm Biology Goethe University Frankfurt Main Germany
Department of Biomedicine University of Barcelona
Department of Clinical Immunology Copenhagen University Hospital Rigshospitalet Copenhagen Denmark
Department of Hematology CHU Lille France
Department of Immunology Erasmus MC University Medical Center Rotterdam Rotterdam Netherlands
Department of Pediatric Hematology and Oncology Medical University of Silesia Zabrze Poland
Department of Pediatrics MHH Hanover Germany
Department of Pediatrics University Hospital Schleswig Holstein Kiel Germany
Genetics and Personalized Medicine Clinic Tartu University Hospital Tartu Estonia
Genetics Department AP HP Hopital Robert Debré Paris France
Hematology Laboratory Saint Louis Hospital Assistance Publique Hôpitaux de Paris Paris France
Hematology Laboratory Sheba Medical Center Tel Hashomer Israel
Institució Catalana de Recerca i Estudis Avançats Barcelona Spain
Institut Universitaire du Cancer de Toulouse Toulouse Cedex 9 France
Institute of Human Genetics Medical School Hannover Hannover Germany
Instituto Nacional de Câncer Rio de Janeiro RJ Brazil
Instituto Português de Oncologia Departament of Hematology Lisbon Portugal
Josep Carreras Leukemia Research Institute Barcelona Spanish Network for Advanced Therapies
Labdia Labordiagnostik Vienna Austria
Laboratoire d'Hématologie Biologique CHU Bordeaux Bordeaux France
Laboratory of Clinical Genetics Fimlab Laboratories Tampere Finland
Molecular Oncology Laboratory Schneider Children's Medical Center of Israel Petah Tikva Israel
Princess Máxima Center for Pediatric Oncology Utrecht Netherlands
Regional Children's Hospital Ekaterinburg Russian Federation
Research Institute of Medical Cell Technologies Ekaterinburg Russian Federation
Spanish Collaborative Cancer Network
St Anna Children's Cancer Research Institute Vienna Austria
St Anna Children's Hospital Medical University of Vienna Vienna Austria
Tettamanti Research Center Pediatrics University of Milano Bicocca Fondazione Tettamanti Monza Italy
Université Paris Cité INSERM CNRS U944 UMR7212 Institut de recherche Saint Louis Paris France
Université Paris Cité Inserm U1131 Institut de recherche Saint Louis Paris France
Citace poskytuje Crossref.org
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