biostudies-literatureMeyer CWilhelm Sander-StiftungDeutsche ForschungsgemeinschaftMedical Research Council988-1005https://www.ebi.ac.uk/biostudies/studies/S-EPMC10169636biostudies-literatureUnknown37(5)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 LeukemiaThe KMT2A recombinome of acute leukemias in 2023.PMC10169636MA 1876/12-12018.070.2MR/S021590/1Delabesse ELentes JMontonen MKubetzko SBallerini PGroger DHancock JFechina LArfeuille CSutton RBomken SMoricke AKohrer SArcher PMenendez PMeyer CSilva MLMZur Stadt UBurmeister TTrautmann HSedek LCorral Abascal LMadsen HOEmerenciano MLapillonne HSonneveld EBueno CIzraeli SLundan TStrehl SClappier EStanulla MZuna JDworzak MNVan der Velden VHJMason JGrardel NKim JLo Nigro LAlten JBergmann AKJuvonen VTrka JMarschalek RLarghero PAlmeida Lopes BBidet AHaas OAVenn NCShichrur KBruggemann MCazzaniga GLund-Aho TMarcu VNebral KKatsibardi KCaye-Eude ASchafer BWEckert CPrice RGameiro PTsaur GKim RKeernik MCave HPombo-de-Oliveira MSde Matos RRCSzczepanski TfalseThe KMT2A recombinome of acute leukemias in 2023.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 2023-01-01T00:00:00Z2023 May2026-07-14T21:16:35.822Z2025-04-06T10:13:19.767ZS-EPMC101696363701999010.1038/s41375-023-01877-1