t(X;11)(q22;q23) KMT2A/?

2011-02-01   Adriana Zamecnikova 

1.Kuwait Cancer Control Center, Laboratory of Cancer Genetics, Department of Hematology, Shuwaikh, 70653 Kuwait

Clinics and Pathology


The chromosomal translocation t(X;11)(q22;q23) occurs very rarely, with only three cases of infants young children having been described in the literature; 2 AML cases: a 3 years old male, diagnosed with AML-M2 (Harrison et al., 1998) and 2 years old female diagnosed with acute megakaryoblastic leukemia (FAB type M7) (Ribeiro et al., 1993). The one ALL case described in a 4 years old male had a complex karyotype with chromosomal translocation t(11;14)(q13;q32), and monosomy 22 (Soszynska et al., 2008). Of note, the fourth AML (FAB type M2) case reported by Slater in a 10 months old male was shown to involve the SEPTIN6 gene located on Xq24 (Slater et al., 2002).

Phenotype stem cell origin

Suggested involvement of a pluripotent stem cell or a myeloid progenitor cell; myeloid lineage.


No known prior exposure.


Only 3 cases to date, sex ratio 2M/1F.


From the known data, the 3 years old male, diagnosed with AML-M2 remained alive in complete remission at 97 months; the ALL patient was in complete remission after 39 months.



Breakpoints difficult to ascertain; cytogenetic appearance may be similar to t(X;11)(q13;q23) involving the AFX gene that fuses to MLL in acute leukemias.

Cytogenetics morphological


Additional anomalies

Sole abnormality in AML-M2 case, part of a hyperploid karyotype associated with +6, +8, +19, +21, +21 in a child with acute megakaryoblastic leukemia and complex karyotype in ALL case associated with t(11;14)(q13;q32), and monosomy 22, indicating that the t(X;11)(q22;q23) is likely to be a secondary anomaly to t(11;14)(q13;q32) in ALL.

Genes Involved and Proteins

The gene in Xq22 is yet unknown, it is therefore uncertain whether this translocation involve a new MLL partner.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
The MLL gene is frequently disrupted by a variety of chromosomal rearrangements that occur in acute myeloblastic leukemia (AML) and in acute lymphoblastic leukemia (ALL), with a peak incidence in infant leukemia as well as in secondary, topoisomerase II inhibitor-related leukemia.
Dna rna description
The MLL genomic structure consists of 36 exons distributed over 100 kb, the mRNA of ~11.9 kb encodes a 3969 amino-acid nuclear protein with a molecular weight of of 430 kDa.
Protein description
The MLL protein is a multi-domain molecule with regions of homology to diverse proteins; a major regulator of class I homeobox (HOX) gene expression.

Result of the Chromosomal Anomaly


MLL translocation breakpoints cluster within an 8.3-kb region spanning exons 5-11; genomic breakpoint junction usually created on the der(11) chromosome.


Expression of a chimeric protein with actively transforming properties; altered patterns of MLL activity in hematopoietic stem cells resulting in blockage of hematopoietic maturation.

Highly cited references

Pubmed IDYearTitleCitations
348649162022Single-cell multiomics reveals increased plasticity, resistant populations, and stem-cell-like blasts in KMT2A-rearranged leukemia.6
348956992022Prenatal Δ9-Tetrahydrocannabinol Exposure in Males Leads to Motivational Disturbances Related to Striatal Epigenetic Dysregulation.4
353280682022KMT2A: Umbrella Gene for Multiple Diseases.2
354621702022MLL1 inhibition reduces IgM levels in Waldenström macroglobulinemia.2
350206912022Pembrolizumab Achieves a Complete Response in an NF-1 Mutated, PD-L1 Positive Malignant Peripheral Nerve Sheath Tumor: A Case Report and Review of the Benchmarks.1
354670572022PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch.1
355664072022Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia.1
355259052022Discovery of a dual WDR5 and Ikaros PROTAC degrader as an anti-cancer therapeutic.1
350081062022Genome-wide DNA methylation analysis in pediatric acute myeloid leukemia.1
350610702022An evolutionarily conserved mechanism that amplifies the effect of deleterious mutations in osteosarcoma.1
349642552022Comprehensive immunophenotypic study of acute myeloid leukemia with KMT2A (MLL) rearrangement in adults: A single-institution experience.1
342926772022Primary splenic histiocytic sarcoma associated with hemophagocytic lymphohistiocytosis: A case report and review of literature of next-generation sequencing involving FLT3, NOTCH2, and KMT2A mutations.1
352886932022Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia.1
360035102022Editorial: Harnessing chemotherapy resistance and development of novel therapeutic strategies for acute leukemia with KMT2A (MLL)-gene rearrangements.0
359785542022A rare case of transformation from relapsed acute monocytic leukaemia with KMT2A::MLLT10 to acute megakaryoblastic leukaemia.0
359635212022Sequential approach to improve the molecular classification of childhood acute lymphoblastic leukemia.0
359505352022Potent preclinical activity of FLT3-directed chimeric antigen receptor T cell immunotherapy against FLT3-mutant acute myeloid leukemia and KMT2A-rearranged acute lymphoblastic leukemia.0
359416572022Multi-omics analyses of MEN1 missense mutations identify disruption of menin-MLL and menin-JunD interactions as critical requirements for molecular pathogenicity.0
359339462022KMT2A-CBL fusion in rapidly progressive myeloid disorder.0
359270232022Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy.0
359245802022Clinical and biological impact of ATP-binding cassette transporter activity in adult acute myeloid leukemia.0
359188242022Fusion transcript analysis reveals slower response kinetics than multiparameter flow cytometry in childhood acute myeloid leukaemia.0
357963972022Postchemotherapy immune status in infants with acute lymphoblastic leukemia: A report from the JPLSG MLL-10 trial.0
356171492022Pediatric acute myeloid leukemia patients with KMT2A rearrangements: a single-center retrospective study.0
352584012022Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome.0
358930492022Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.0
358216092022Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.0
357784182022Effective tumor cell abrogation via Venetoclax-mediated BCL-2 inhibition in KMT2A-rearranged acute B-lymphoblastic leukemia.0
357160192022Acute promyelocytic leukemia: Immunophenotype and differential diagnosis by flow cytometry.0
355843762022Allelic complexity of KMT2A partial tandem duplications in acute myeloid leukemia and myelodysplastic syndromes.0
355005452022Hoxa11-mediated reduction of cell migration contributes to myeloid sarcoma formation induced by cooperation of MLL/AF10 with activating KRAS mutation in a mouse transplantation model: Hoxa11 in myeloid sarcoma formation.0
350917952022A rare case of acute megakaryoblastic leukemia with t(11;17)(q23;q21) and KMT2A::MLLT6 fusion.0
357344122022Novel Diagnostic and Therapeutic Options for KMT2A-Rearranged Acute Leukemias.0
357278452022Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.0
356888612022FISH improves risk stratification in acute leukemia by identifying KMT2A abnormal copy number and rearrangements.0
356807972022[KMT2A Activates Akt/mTOR Signaling Pathway Through LncRNA-HOTAIR to Influence the Biological Behavior of AML Cells].0
355055972022Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.0
353047382022Therapy-related myeloid neoplasms with normal karyotype show distinct genomic and clinical characteristics compared to their counterparts with abnormal karyotype.0
359851672022PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.0
359456232022Single-cell diploid Hi-C reveals the role of spatial aggregations in complex rearrangements and KMT2A fusions in leukemia.0
359333382022Poor treatment responses were related to poor outcomes in pediatric B cell acute lymphoblastic leukemia with KMT2A rearrangements.0
359300052022Poorly Cohesive Gastric Cancers Showing the Transcriptomic Hallmarks of Epithelial-Mesenchymal Transition Behave Aggressively.0
359151432022High-resolution structural variant profiling of myelodysplastic syndromes by optical genome mapping uncovers cryptic aberrations of prognostic and therapeutic significance.0
358725092022Epigenetic gene alterations in metastatic solid tumours: results from the prospective precision medicine MOSCATO and MATCH-R trials.0
357658792022Rare Gene Rearrangement t(11;22)(q23;q13)/KMT2A-EP300 in Therapy-related Acute Myeloid Leukemia: A Case Report.0
357131682022Incidence and prognostic value of central nervous system involvement in infants with B-cell precursor acute lymphoblastic leukemia treated according to the MLL-Baby protocol.0
356812732022Molecular deciphering of primary liver neuroendocrine neoplasms confirms their distinct existence with foregut-like profile.0
353444692022Adult acute lymphoblastic leukemia in a resource-constrained setting: outcomes after expansion of genetic evaluation.0
356859212022Low Prevalence of ETV6::RUNX1 Fusion Gene in a Hispanic Population.0
356771552022The Combination of Curaxin CBL0137 and Histone Deacetylase Inhibitor Panobinostat Delays KMT2A-Rearranged Leukemia Progression.0
355347772022IKAROS and MENIN coordinate therapeutically actionable leukemogenic gene expression in MLL-r acute myeloid leukemia.0
355068732022Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.0
351725632022Outstanding outcomes in infants with KMT2A-germline acute lymphoblastic leukemia treated with chemotherapy alone: results of the Children's Oncology Group AALL0631 trial.0
360112852022Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction.0
359353612022Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.0
358337552022Mutational landscape and clinical outcome of pediatric acute myeloid leukemia with 11q23/KMT2A rearrangements.0
357933922022In vivo genome-wide CRISPR screening in murine acute myeloid leukemia uncovers microenvironmental dependencies.0
357310372022Mutational landscape of non-functional adrenocortical adenomas.0
348941392022Detection of a Cryptic KMT2A/AFDN Gene Fusion [ins(6;11)(q27;q23q23)] in a Pediatric Patient with Newly Diagnosed Acute Myeloid Leukemia.0
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0
355629652022Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.0
354846822022Molecular characterisation and clinical outcome of B-cell precursor acute lymphoblastic leukaemia with IG-MYC rearrangement.0
354829272022Preinfusion factors impacting relapse immunophenotype following CD19 CAR T cells.0
354093912022Lineage Conversion in Pediatric B-Cell Precursor Acute Leukemia under Blinatumomab Therapy.0
350788592022Bone Marrow Surveillance of Pediatric Cancer Survivors Identifies Clones that Predict Therapy-Related Leukemia.0
349660902022KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia.0
358848342022Molecular Measurable Residual Disease Assessment before Hematopoietic Stem Cell Transplantation in Pediatric Acute Myeloid Leukemia Patients: A Retrospective Study by the I-BFM Study Group.0
358148312022Neonatal congenital leukemia caused by several missense mutations and AFF1-KMT2A fusion: A case report.0
358007672022The immune checkpoint ICOSLG is a relapse-predicting biomarker and therapeutic target in infant t(4;11) acute lymphoblastic leukemia.0
357982982022Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and review.0
357737692022[Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].0
357704932022To B- or not to B-: A review of lineage switched acute leukemia.0
357687682022Upregulated lncARAT in Schwann cells promotes axonal regeneration by recruiting and activating proregenerative macrophages.0
357649192022Along the Bos taurus genome, uncover candidate imprinting control regions.0
357566602022Murine Models of Acute Myeloid Leukemia.0
357352032022Immunophenotypic characteristics of ZNF384 rearrangement compared with BCR-ABL1, KMT2A rearrangement, and other adult B-cell precursor acute lymphoblastic leukemia.0
357312752022Clinical features and next-generation sequencing landscape of essential thrombocythemia, prefibrotic primary myelofibrosis, and overt fibrotic primary myelofibrosis: a Chinese monocentric retrospective study.0
357306532022Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.0
357292842022Strain-specific effects of probiotic Lactobacilli on mRNA expression of epigenetic modifiers in intestinal epithelial cells.0
354442582022Dormant state of quiescent neural stem cells links Shank3 mutation to autism development.0
352489742022Detecting the "undetectable" alterations: Use of NGS to uncover high-risk alterations.0
353871322022Point Mutations in the FLT3-ITD Region Are Rare but Recurrent Alterations in Adult AML and Associated With Concomitant KMT2A-PTD.0
353564162022Expanding diagnostic criteria: Multiorgan T-Cell/myeloid mixed phenotype acute leukemia with t(v;11q23) KMT2A-rearrangement successfully treated by allogeneic stem cell transplant.0
353274402022High-Throughput Drug Library Screening in Primary KMT2A-Rearranged Infant ALL Cells Favors the Identification of Drug Candidates That Activate P53 Signaling.0
353012202022A distinct core regulatory module enforces oncogene expression in KMT2A-rearranged leukemia.0
347998562022Gemtuzumab ozogamicin in (KMT2A)-rearranged adult acute myeloid leukaemia (AML) in the UK Medical Research Council AML15 and AML16 trials.0
347667242022Cryptic t(6;11) KMT2A rearrangement in a pediatric acute myeloid leukemia patient detected by next-generation sequencing and dual-fusion FISH analysis.0
356826272022Molecular Classification and Overcoming Therapy Resistance for Acute Myeloid Leukemia with Adverse Genetic Factors.0
356462992022Relapsed acute lymphoblastic leukaemia after allogeneic stem cell transplantation: a therapeutic dilemma challenging the armamentarium of immunotherapies currently available (case reports).0
355928562022A Somatic Mutation Signature Predicts the Best Overall Response to Anti-programmed Cell Death Protein-1 Treatment in Epidermal Growth Factor Receptor/Anaplastic Lymphoma Kinase-Negative Non-squamous Non-small Cell Lung Cancer.0
354196122022lncRNA deregulation in childhood acute lymphoblastic leukemia: A systematic review.0
352025502022Menin-MLL protein-protein interaction inhibitors: a patent review (2014-2021).0
352812332022Acute Lymphoblastic Leukaemia in the Youngest: Haematopoietic Stem Cell Transplantation and Beyond.0
354795812022High-Throughput Sequencing Reveals CXCR4 and IGF1 Behave Different Roles in Weightlessness Osteoporosis.0
350440582022Myeloid sarcoma concurrent with de novo KMT2A gene-rearranged infantile acute lymphoblastic leukemia.0
349958972022A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia.0
348713732022Impact of high-risk cytogenetics on outcomes for children and young adults receiving CD19-directed CAR T-cell therapy.0
335263732022Precursor B-lineage acute lymphoblastic leukemia patients with aberrant natural killer cell and T cell - lineage antigen expression: experience from a tertiary cancer care center.0
359229502022[Treatment strategy for infant acute lymphoblastic leukemia].0
357708062022Feeding disorder in a patient with Wiedemann-Steiner syndrome.0


Pubmed IDLast YearTitleAuthors
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
82201281993Acute megakaryoblastic leukemia in children and adolescents: a retrospective analysis of 24 cases.Ribeiro RC et al
120963482002MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site.Slater DJ et al
186336152008The application of conventional cytogenetics, FISH, and RT-PCR to detect genetic changes in 70 children with ALL.Soszynska K et al


Atlas Image
Partial karyotypes showing the chromosomal translocation t(X;11)(q22;q23).


Adriana Zamecnikova

t(X;11)(q22;q23) KMT2A/?

Atlas Genet Cytogenet Oncol Haematol. 2011-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1573/t(x;11)(q22;q23)