t(6;11)(q15;q23) KMT2A/?
2009-03-01 Jong Rak Choi , Tae Sung Park Affiliation1.Department of Laboratory Medicine, Kyung Hee University College of Medicine, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea (TSP); Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea (JRC)
Clinics and Pathology
Disease
Note
Only 4 cases to date, 3 of which do not provide further descriptions.
Phenotype stem cell origin
All cases were acute myeloid leukaemia (AML); AML-M0 (1 case), AML-M2 (1 case), AML-M4 (2 cases).
Epidemiology
All patients were female between the ages of 13 to 68 years.
Multi-color FISH image showing t(6;11)(q15;q23).
Bone marrow morphology from AML-M2 case with t(6;11)(q15;q23).
Prognosis
Very poor in 1 case (survival : only 2 weeks in AML-M2).
Cytogenetics
Cytogenetics morphological
It shows distinct balanced chromosomal abnormalities between chromosomes 6 and 11; however, it should be differentiated from t(6;11)(q13;q23) in association with MLL/ SMAP1 rearrangement.
Cytogenetics molecular
MLL breakapart FISH probe is very useful.
Additional anomalies
del(5)(q13q15) in 1 case, sole abnormality in remaining 3 cases.
Genes Involved and Proteins
Note
The gene involved in 6q15 is unknown.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
Note
More than 50 different translocation fusion partners in association with the MLL gene have been reported in the literature. In chromosome 6, t(6;11)(q27;q23) (MLL/AF6 rearrangement) is the most commonly encountered chromosomal abnormality. In contrast, t(6;11)(q13;q23) or t(6;11)(q15;q23) is the rarest type of MLL rearrangement involving the long arm of chromosome 6.
Result of the Chromosomal Anomaly
Note
Unknown. However, MLL/SMAP1 rearrangement was excluded in one case by both our group and Dr. Meyer.Unknown.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38174649 | 2023 | Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression. | 156 |
| 36497385 | 2022 | Targeting Menin and CD47 to Address Unmet Needs in Acute Myeloid Leukemia. | 113 |
| 35301220 | 2022 | A distinct core regulatory module enforces oncogene expression in KMT2A-rearranged leukemia. | 112 |
| 36979800 | 2023 | Updates in KMT2A Gene Rearrangement in Pediatric Acute Lymphoblastic Leukemia. | 111 |
| 31723831 | 2019 | The Impact of PI3-kinase/RAS Pathway Cooperating Mutations in the Evolution of KMT2A-rearranged Leukemia. | 109 |
| 39179671 | 2024 | Menin inhibitors in pediatric acute leukemia: a comprehensive review and recommendations to accelerate progress in collaboration with adult leukemia and the international community. | 108 |
| 35328068 | 2022 | KMT2A: Umbrella Gene for Multiple Diseases. | 104 |
| 33555272 | 2021 | RUNX2 regulates leukemic cell metabolism and chemotaxis in high-risk T cell acute lymphoblastic leukemia. | 103 |
| 36635503 | 2023 | Targeting Menin disrupts the KMT2A/B and polycomb balance to paradoxically activate bivalent genes. | 102 |
| 39303915 | 2024 | Histone methyltransferase KMT2A: Developmental regulation to oncogenic transformation. | 94 |
| 38888967 | 2024 | KMT2A and chronic inflammation as potential drivers of sporadic parathyroid adenoma. | 83 |
| 39475509 | 2024 | NUP98 fusion proteins and KMT2A-MENIN antagonize PRC1.1 to drive gene expression in AML. | 83 |
| 33608309 | 2021 | Rare KMT2A-ELL and Novel ZNF56-KMT2A Fusion Genes in Pediatric T-cell Acute Lymphoblastic Leukemia. | 83 |
| 39428967 | 2024 | Recent Developments and Evolving Therapeutic Strategies in KMT2A-Rearranged Acute Leukemia. | 82 |
| 37788669 | 2023 | Epigenetic balance ensures mechanistic control of MLL amplification and rearrangement. | 81 |
| 38889007 | 2024 | An enhancer RNA recruits KMT2A to regulate transcription of Myb. | 80 |
| 36256911 | 2023 | Outcomes of Childhood Noninfant Acute Lymphoblastic Leukemia With 11q23/KMT2A Rearrangements in a Modern Therapy Era: A Retrospective International Study. | 80 |
| 38612531 | 2024 | Infant Acute Lymphoblastic Leukemia-New Therapeutic Opportunities. | 79 |
| 37019990 | 2023 | The KMT2A recombinome of acute leukemias in 2023. | 76 |
| 37891368 | 2023 | SET-PP2A complex as a new therapeutic target in KMT2A (MLL) rearranged AML. | 74 |
| 37019972 | 2023 | Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication. | 71 |
| 35734412 | 2022 | Novel Diagnostic and Therapeutic Options for KMT2A-Rearranged Acute Leukemias. | 70 |
| 36843114 | 2023 | Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. | 70 |
| 38029383 | 2024 | Functional relevance of circRNA aberrant expression in pediatric acute leukemia with KMT2A::AFF1 fusion. | 68 |
| 37740239 | 2023 | Modelling acquired resistance to DOT1L inhibition exhibits the adaptive potential of KMT2A-rearranged acute lymphoblastic leukemia. | 68 |
| 36781850 | 2023 | Proteasome inhibition targets the KMT2A transcriptional complex in acute lymphoblastic leukemia. | 68 |
| 39380002 | 2024 | The small inhibitor WM-1119 effectively targets KAT6A-rearranged AML, but not KMT2A-rearranged AML, despite shared KAT6 genetic dependency. | 68 |
| 36629017 | 2023 | DNA fragility at the KMT2A/MLL locus: insights from old and new technologies. | 67 |
| 37945831 | 2023 | Non-canonical MLL1 activity regulates centromeric phase separation and genome stability. | 65 |
| 39682203 | 2024 | Synergistic Strategies for KMT2A-Rearranged Leukemias: Beyond Menin Inhibitor. | 62 |
| 38300432 | 2024 | Small Molecule Menin Inhibitors: Novel Therapeutic Agents Targeting Acute Myeloid Leukemia with KMT2A Rearrangement or NPM1 Mutation. | 61 |
| 37709746 | 2023 | KMT2A associates with PHF5A-PHF14-HMG20A-RAI1 subcomplex in pancreatic cancer stem cells and epigenetically regulates their characteristics. | 61 |
| 37036970 | 2023 | Interrogating bromodomain inhibitor resistance in KMT2A-rearranged leukemia through combinatorial CRISPR screens. | 60 |
| 39201709 | 2024 | KMT2A Rearrangements in Leukemias: Molecular Aspects and Therapeutic Perspectives. | 60 |
| 34663924 | 2021 | Automated CUT&Tag profiling of chromatin heterogeneity in mixed-lineage leukemia. | 57 |
| 39572532 | 2024 | KMT2A regulates the autophagy-GATA4 axis through METTL3-mediated m(6)A modification of ATG4a to promote NPCs senescence and IVDD progression. | 57 |
| 36479909 | 2023 | KMT2A-D pathogenicity, prevalence, and variation according to a population database. | 57 |
| 38964931 | 2024 | [Progress of allogeneic hematopoietic stem cell transplantation in KMT2A-rearranged acute leukemia]. | 55 |
| 35288693 | 2022 | Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia. | 52 |
| 33020282 | 2020 | Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/KMT2A. | 50 |
| 38892207 | 2024 | Distinct Responses to Menin Inhibition and Synergy with DOT1L Inhibition in KMT2A-Rearranged Acute Lymphoblastic and Myeloid Leukemia. | 50 |
| 38867582 | 2024 | Azacitidine as epigenetic priming for chemotherapy is safe and well-tolerated in infants with newly diagnosed KMT2A-rearranged acute lymphoblastic leukemia: Children's Oncology Group trial AALL15P1. | 50 |
| 34864916 | 2022 | Single-cell multiomics reveals increased plasticity, resistant populations, and stem-cell-like blasts in KMT2A-rearranged leukemia. | 49 |
| 38049829 | 2023 | Immunoproteasome function maintains oncogenic gene expression in KMT2A-complex driven leukemia. | 49 |
| 34550633 | 2022 | KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up. | 49 |
| 38818577 | 2024 | Zhi-zi-chi decoction mitigates depression by enhancing lncRNA Six3os1 expression and promoting histone H3K4 methylation at the BDNF promoter. | 48 |
| 39350229 | 2024 | MBD2 regulates the progression and chemoresistance of cholangiocarcinoma through interaction with WDR5. | 45 |
| 34048275 | 2021 | Gemtuzumab Ozogamicin Improves Event-Free Survival and Reduces Relapse in Pediatric KMT2A-Rearranged AML: Results From the Phase III Children's Oncology Group Trial AAML0531. | 43 |
| 38905635 | 2024 | Preclinical efficacy of the potent, selective menin-KMT2A inhibitor JNJ-75276617 (bleximenib) in KMT2A- and NPM1-altered leukemias. | 40 |
| 38651453 | 2024 | A 2024 Update on Menin Inhibitors. A New Class of Target Agents against KMT2A-Rearranged and NPM1-Mutated Acute Myeloid Leukemia. | 40 |
| 38096371 | 2024 | Mezigdomide is effective alone and in combination with menin inhibition in preclinical models of KMT2A-r and NPM1c AML. | 40 |
| 39086307 | 2024 | Revumenib for patients with acute leukemia: a new tool for differentiation therapy. | 40 |
| 38306602 | 2024 | Structural variants involving MLLT10 fusion are associated with adverse outcomes in pediatric acute myeloid leukemia. | 40 |
| 38270130 | 2024 | Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation in Adult Patients With Acute Myeloid Leukemia Harboring KMT2A Rearrangement and Its Prognostic Factors. | 40 |
| 24813172 | 2014 | Detection of gene rearrangements in targeted clinical next-generation sequencing. | 39 |
| 29203834 | 2018 | Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. | 38 |
| 39158067 | 2024 | Epigenetic regulation of noncanonical menin targets modulates menin inhibitor response in acute myeloid leukemia. | 37 |
| 38730645 | 2024 | Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia. | 37 |
| 38621200 | 2024 | Optimized cytogenetic risk-group stratification of KMT2A-rearranged pediatric acute myeloid leukemia. | 35 |
| 36725100 | 2023 | Prognostic significance of KMT2A-PTD in patients with acute myeloid leukaemia: a systematic review and meta-analysis. | 35 |
| 32461620 | 2020 | Pan-sarcoma genomic analysis of KMT2A rearrangements reveals distinct subtypes defined by YAP1-KMT2A-YAP1 and VIM-KMT2A fusions. | 33 |
| 36922593 | 2023 | The menin inhibitor revumenib in KMT2A-rearranged or NPM1-mutant leukaemia. | 31 |
| 39509656 | 2025 | Revumenib Revises the Treatment Landscape for KMT2A-r Leukemia. | 29 |
| 39121437 | 2025 | Menin Inhibition With Revumenib for KMT2A-Rearranged Relapsed or Refractory Acute Leukemia (AUGMENT-101). | 26 |
| 37969120 | 2023 | Prognostic importance of the fusion partners and measurable residual disease in patients with acute myeloid leukemia who harbor 11q23/KMT2A alterations. | 25 |
| 32611575 | 2020 | NUP98 and KMT2A: usually the bride rather than the bridesmaid. | 21 |
| 38519799 | 2024 | Measurable residual disease quantification in adult patients with KMT2A-rearranged acute lymphoblastic leukemia. | 15 |
| 35584376 | 2022 | Allelic complexity of KMT2A partial tandem duplications in acute myeloid leukemia and myelodysplastic syndromes. | 13 |
| 38802349 | 2024 | Lower relapse incidence with HAPLO versus MSD or MUD HCTs for AML patients with KMT2A rearrangement: a study from the Global Committee and the ALWP of the EBMT. | 12 |
| 38197101 | 2023 | Fusion and flow: refining risk prediction in KMT2A-rearranged pediatric acute myeloid leukemia. | 11 |
| 39264614 | 2024 | A menin-KMT2A inhibitor to overcome resistance. | 10 |
| 29806701 | 2018 | Neonatal leukaemia. | 0 |
| 36395313 | 2022 | Infant Leukemia. | 0 |
| 35716019 | 2022 | Acute promyelocytic leukemia: Immunophenotype and differential diagnosis by flow cytometry. | 0 |
| 37995105 | 2023 | Unraveling KMT2A-rearranged ALL. | 0 |
| 37595275 | 2023 | Genetic alterations and MRD refine risk assessment for KMT2A-rearranged B-cell precursor ALL in adults: a GRAALL study. | 0 |
| 36301633 | 2022 | KMT2A-rearranged leukemia: the shapeshifter. | 0 |
| 38710595 | 2024 | The Menin story in acute myeloid leukaemia-The road to success. | 0 |
| 38632314 | 2024 | KRAS G12 mutations as adverse prognostic factors in KMT2A-rearranged acute myeloid leukemia. | 0 |
| 38905593 | 2025 | How I treat infant acute lymphoblastic leukemia. | 0 |
| 38579381 | 2024 | Chromatin and aberrant enhancer activity in KMT2A rearranged acute lymphoblastic leukemia. | 0 |
| 36991259 | 2023 | Menin-KMT2A interaction inhibitor shows promise. | 0 |
| 38234854 | 2024 | KMT2A oncoproteins induce epigenetic resistance to targeted therapies. | 0 |
| 36892942 | 2023 | Trying to outRun-DIC in KMT2Ar AML: It's tricky. | 0 |
| 27841777 | 2017 | Updates in the biology and therapy for infant acute lymphoblastic leukemia. | 0 |
| 34383244 | 2021 | KMT2A-ARHGEF12, a therapy related fusion with poor prognosis. | 0 |
| 36964033 | 2023 | KMT2A amplification in B lymphoblastic leukaemia. | 0 |
| 25284327 | 2015 | The epigenetic factor Kmt2a/Mll1 regulates neural progenitor proliferation and neuronal and glial differentiation. | 0 |
| 27759909 | 2017 | Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. | 0 |
| 38740515 | 2024 | Personalized therapy guided by single-cell transcriptomic analysis in relapsed and refractory KMT2A::MLLT10 AML with extensive extramedullary infiltration: A case report. | 0 |
| 34497221 | 2021 | [Acute leukemia of infants and neonates]. | 0 |
| 39887730 | 2025 | Targeting the Menin-KMT2A interaction in leukemia: Lessons learned and future directions. | 0 |
| 33827367 | 2021 | Is acute lymphoblastic leukemia with mature B-cell phenotype and KMT2A rearrangements a new entity? A systematic review and meta-analysis. | 0 |
| 37713130 | 2023 | KMT2A-rearranged sarcoma with unusual fusion gene CBX6::KMT2A::PYGO1. | 0 |
| 36003510 | 2022 | Editorial: Harnessing chemotherapy resistance and development of novel therapeutic strategies for acute leukemia with KMT2A (MLL)-gene rearrangements. | 0 |
| 37575084 | 2023 | VIM::KMT2A rearranged sarcoma: a rare emerging entity. | 0 |
| 33712867 | 2021 | Minimal residual disease monitoring and preemptive immunotherapies for frequent 11q23 rearranged acute leukemia after allogeneic hematopoietic stem cell transplantation. | 0 |
| 36441356 | 2023 | Evolution and optimization of therapies for acute lymphoblastic leukemia in infants. | 0 |
| 33314053 | 2021 | Rearrangements of ATP5L-KMT2A in acute lymphoblastic leukaemia. | 0 |
| 25131304 | 2015 | MLL/KMT2A translocations in diffuse large B-cell lymphomas. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15626757 | 2005 | Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. | Meyer C et al |
| 18983303 | 2008 | Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia. | Park JS et al |
| 18992643 | 2008 | MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities. | Park TS et al |
| 15921375 | 2005 | Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible involvement of c-MYB in a new recurrent translocation, t(6;7)(q23;q32 through 36). | Sinclair P et al |
| 8123853 | 1994 | Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0). | Stasi R et al |
Summary
Giemsa-banding partial karyograms of t(6;11)(q15;q23). (Each left side chromosomes 6 and 11: normal, each right side chromosomes 6 and 11: derivative chromosome).
Citation
Jong Rak Choi ; Tae Sung Park
t(6;11)(q15;q23) KMT2A/?
Atlas Genet Cytogenet Oncol Haematol. 2009-03-01
Online version: http://atlasgeneticsoncology.org/haematological/1522/t(6;11)(q15;q23)-kmt2a
