The KMT2A recombinome of acute leukemias in 2023
Meyer, Claus (DCAL/Institute of Pharm. Biology. Goethe-University(Alemanya))
Larghero, Patrizia (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya))
Lopes, BA. (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya))
Burmeister, Thomas (Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany)
Gröger, Daniela (Charité - Universitätsmedizin Berlin)
Sutton, Rosemary (Molecular Diagnostics. Children's Cancer Institute. Lowy Cancer Research Centre. UNSW (Sidney, Austràlia))
Venn, Nicola C. (Molecular Diagnostics. Children's Cancer Institute. Lowy Cancer Research Centre. UNSW (Sidney, Austràlia))
Cazzaniga, Giovanni (University of Milano-Bicocca/Fondazione Tettamanti (Itàlia))
Corral Abascal, Lilia (University of Milano-Bicocca/Fondazione Tettamanti (Itàlia))
Tsaur, Grigory А. (Research Institute of Medical Cell Technologies (Ekaterinburg, Rússia))
Fechina, Larisa G. (Research Institute of Medical Cell Technologies (Ekaterinburg, Rússia))
Emerenciano, Mariana (Instituto Nacional de Câncer (INCA)(Rio de Janeiro, Brasil))
Pombo-de-Oliveira, Maria S. (Instituto Nacional de Câncer (INCA)(Rio de Janeiro, Brasil))
Lund-Aho, Tiina (Laboratory of Clinical Genetics, Fimlab Laboratories (Tampere, Finlàndia))
Lundán, Tuija (University of Turku and Turku University Hospital (Turku, Finlàndia))
Montonen, M. (University of Turku and Turku University Hospital (Turku, Finlàndia))
Juvonen, Vesa (University of Turku and Turku University Hospital (Turku, Finlàndia))
Zuna, Jan (Charles University and University Hospital Motol (Praga, República Txeca))
Trka, Jan M. (Charles University and University Hospital Motol (Praga, República Txeca))
Ballerini, Paola (Pierre et Marie Curie University (París, França))
Lapillonne, Hélène (Pierre et Marie Curie University (París, França))
Van der Velden, Vincent (University Medical Center Rotterdam (Països Baixos))
Sonneveld, Edwin (Princess Máxima Center for Pediatric Oncology (Utrecht, Països Baixos))
Delabesse, Éric C. M. (Institut Universitaire du Cancer de Toulouse (França))
Capela de Matos, Roberto (National Cancer Institute (INCA) (Rio de Janeiro, Brasil))
Silva, Maria Luiza (National Cancer Institute (INCA) (Rio de Janeiro, Brasil))
Bomken, Simon (Newcastle University, Newcastle upon Tyne (Regne Unit))
Katsibardi, Katerina (National and Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital (Atenes, Grècia))
Keernik, Maria (Tartu University Hospital (Tartu, Estònia))
Grardel, Nathalie (University Hospital Claude Huriez)
Mason, J. (Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory (Regne Unit))
Price, Richard (Newcastle University and the Great North Children's West Midlands Regional Genetics Laboratory (Regne Unit))
Kim, J. (DCAL/Institute of Pharm. Biology. Goethe-University (Alemanya))
Eckert, Cornelia (Charité - Universitätsmedizin Berlin)
Lo Nigro, Luca (Centro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico" (Catània, Itàlia))
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Menéndez Bujan, Pablo (Centro di Riferimento Regionale di Ematologia ed Oncologia Pediatrica, Azienda Policlinico "G. Rodolico" (Catània, Itàlia))
Zur Stadt, Udo (University Medical Center Hamburg-Eppendorf (Hamburg, Alemanya))
Gameiro, Paula (Instituto Português de Oncologia, Departament of Hematology (Lisboa, Portugal))
Sedek, Łukasz (Medical University of Silesia (Zabrze, Polònia))
Szczepanski, Tomasz (Medical University of Silesia (Zabrze, Polònia))
Bidet, A. (Laboratoire d'Hématologie Biologique, CHU Bordeaux (França))
Marcu, Victoria (Hematology Laboratory, Sheba Medical Center, Tel-Hashomer, Israel)
Shichrur, Keren (Schneider Children's Medical Center of Israel, Petah Tikva, Israel)
Izraeli, Shai (Tel Aviv University, Tel Aviv, Israel)
Madsen, Hans Ole (Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark)
Schäfer, Beat (University Children's Hospital Zurich (Zúric, Suïssa))
Kubetzko, Susanne (University Children's Hospital Zurich (Zúric, Suïssa))
Kim, Rathana (Université Paris Cité (França))
Clappier, Emmanuelle (Université Paris Cité (França))
Trautmann, Heiko (University Hospital Schleswig-Holstein (Kiel, Alemanya))
Brüggemann, Monika (University Hospital Schleswig-Holstein (Kiel, Alemanya))
Archer, Paul (Bristol Genetics Laboratory, North Bristol NHS Trust (Bristol, Regne Unit))
Hancock, Jeremy P. (Bristol Genetics Laboratory, North Bristol NHS Trust (Bristol, Regne Unit))
Alten, Julia (University Hospital Schleswig-Holstein (Kiel, Alemanya))
Möricke, Anja (University Hospital Schleswig-Holstein (Kiel, Alemanya))
Stanulla, Martin (Department of Pediatrics, MHH (Hanover, Alemanya))
Lentes, Jana (Medical School Hannover (Alemanya))
Bergmann, Anke K. (Medical School Hannover (Alemanya))
Strehl, Sabine (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria))
Köhrer, Stefan (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria))
Nebral, Karin (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria))
Dworzak, Michael Norbert (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria))
Haas, Oskar A. (St. Anna Children's Cancer Research Institute (CCRI) (Vienna, Àustria))
Arfeuille, Chloe (Hopital Robert Debré (París, França))
Caye Eude, Aurélie (Hopital Robert Debré (París, França))
Cavé, Hélène (Hopital Robert Debré (París, França))
Marschalek, Rolf (Goethe-University (Alemanya))

Fecha:	2023
Resumen:	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.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Publicado en:	Leukemia, Vol. 37 Núm. 5 (may 2023) , p. 988-1005, ISSN 1476-5551

DOI: 10.1038/s41375-023-01877-1
PMID: 37019990

18 p, 3.7 MB

El registro aparece en las colecciones:
Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP) > Instituto de Investigación contra la Leucemia Josep Carreras
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