t(6;11)(q15;q23) KMT2A/?

2009-03-01   Jong Rak Choi , Tae Sung Park 

1.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


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).


All patients were female between the ages of 13 to 68 years.
Atlas Image
Multi-color FISH image showing t(6;11)(q15;q23).
Atlas Image
Bone marrow morphology from AML-M2 case with t(6;11)(q15;q23).


Very poor in 1 case (survival : only 2 weeks in AML-M2).


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

The gene involved in 6q15 is unknown.
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
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.

Highly cited references

Pubmed IDYearTitleCitations
357292842022Strain-specific effects of probiotic Lactobacilli on mRNA expression of epigenetic modifiers in intestinal epithelial cells.0
357160192022Acute promyelocytic leukemia: Immunophenotype and differential diagnosis by flow cytometry.0
356888612022FISH improves risk stratification in acute leukemia by identifying KMT2A abnormal copy number and rearrangements.0
356171492022Pediatric acute myeloid leukemia patients with KMT2A rearrangements: a single-center retrospective study.0
355259052022Discovery of a dual WDR5 and Ikaros PROTAC degrader as an anti-cancer therapeutic.0
355055972022Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.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
354442582022Dormant state of quiescent neural stem cells links Shank3 mutation to autism development.0
353444692022Adult acute lymphoblastic leukemia in a resource-constrained setting: outcomes after expansion of genetic evaluation.0
353047382022Therapy-related myeloid neoplasms with normal karyotype show distinct genomic and clinical characteristics compared to their counterparts with abnormal karyotype.0
352489742022Detecting the "undetectable" alterations: Use of NGS to uncover high-risk alterations.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
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
355843762022Allelic Complexity of KMT2A Partial Tandem Duplications in Acute Myeloid Leukemia and Myelodysplastic Syndromes.0
355347772022IKAROS and MENIN coordinate therapeutically actionable leukemogenic gene expression in MLL-r acute myeloid leukemia.0
354196122022lncRNA deregulation in childhood acute lymphoblastic leukemia: A systematic review.0
352025502022Menin-MLL protein-protein interaction inhibitors: a patent review (2014-2021).0
357352032022Immunophenotypic characteristics of ZNF384 rearrangement compared with BCR-ABL1, KMT2A rearrangement, and other adult B-cell precursor acute lymphoblastic leukemia.0
357344122022Novel Diagnostic and Therapeutic Options for KMT2A-Rearranged Acute Leukemias.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
357310372022Mutational landscape of non-functional adrenocortical adenomas.0
357306532022Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.0
357278452022Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.0
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 its distinct existence with foregut-like profile.0
356807972022[KMT2A Activates Akt/mTOR Signaling Pathway Through LncRNA-HOTAIR to Influence the Biological Behavior of AML Cells].0
350917952022A rare case of acute megakaryoblastic leukemia with t(11;17)(q23;q21) and KMT2A::MLLT6 fusion.0
350081062022Genome-wide DNA methylation analysis in pediatric acute myeloid leukemia.0
354795812022High-Throughput Sequencing Reveals CXCR4 and IGF1 Behave Different Roles in Weightlessness Osteoporosis.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
350440582022Myeloid sarcoma concurrent with de novo KMT2A gene-rearranged infantile acute lymphoblastic leukemia.0
348713732022Impact of high-risk cytogenetics on outcomes for children and young adults receiving CD19-directed CAR T-cell therapy.0
348649162022Single-cell multiomics reveals increased plasticity, resistant populations, and stem-cell-like blasts in KMT2A-rearranged leukemia.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
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
355068732022Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.0
354621702022MLL1 inhibition reduces IgM levels in Waldenström macroglobulinemia.1
351725632022Outstanding outcomes in infants with KMT2A-germline acute lymphoblastic leukemia treated with chemotherapy alone: results of the Children's Oncology Group AALL0631 trial.0
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.0
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.0
353267052022CDK6 Degradation Is Counteracted by p16INK4A and p18INK4C in AML.1
353012202022A distinct core regulatory module enforces oncogene expression in KMT2A-rearranged leukemia.0
352584012022Adult acute myeloid leukemia patients with NUP98 rearrangement have frequent cryptic translocations and unfavorable outcome.0
351213702022Targeted inhibitors and antibody immunotherapies: Novel therapies for paediatric leukaemia and lymphoma.0
350610702022An evolutionarily conserved mechanism that amplifies the effect of deleterious mutations in osteosarcoma.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
355665032022Genetic Characteristics According to Subgroup of Acute Myeloid Leukemia with Myelodysplasia-Related Changes.0
355664072022Machine Learning Based Analysis of Relations between Antigen Expression and Genetic Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukaemia.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
354670572022PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch.0
352886932022Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia.1
349958972022A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic 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
350902282022[Analysis of gene variation and clinical characteristics of Wiedemann-Steiner syndrome].0
349333432022Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.1
346430332022Lineage switch from acute myeloid leukemia with KMT2A-PTD to mixed phenotype acute leukemia with t(v;11q23).0
341344722022RXRA DT448/9PP generates a dominant active variant capable of inducing maturation in acute myeloid leukemia cells.1
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
353280682022KMT2A: Umbrella Gene for Multiple Diseases.0
353274402022High-Throughput Drug Library Screening in Primary KMT2A-Rearranged Infant ALL Cells Favors the Identification of Drug Candidates That Activate P53 Signaling.0
352492852022[Primary lung salivary gland-type duct carcinoma: a clinicopathological analysis of two cases and review of literature].0
349642552022Comprehensive immunophenotypic study of acute myeloid leukemia with KMT2A (MLL) rearrangement in adults: A single-institution experience.1
347674612022Blinatumomab Nonresponse and High-Disease Burden Are Associated With Inferior Outcomes After CD19-CAR for B-ALL.2
346571282022Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.0
351274842021Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged Leukemia.1
351063732022Bistable Photoswitch Allows in Vivo Control of Hematopoiesis.0
350877762021Aberrant GATA2 Activation in Pediatric B-Cell Acute Lymphoblastic Leukemia.0
350822692022Clinico-biological features of T-cell acute lymphoblastic leukemia with fusion proteins.1
350723752022Menin Inhibitors in Acute Myeloid Leukemia-What Does the Future Hold?0
350704602022Spontaneous Complete Remission of Acute Myeloid Leukemia in the Absence of Disease-Modifying Therapy following Severe Pulmonary Involvement by Coronavirus Infectious Disease-19.0
350702202022Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome Presenting t(11;16)(q23;q24).0
350117122022The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.0
348643702022Lineage switch to acute myeloid leukemia during induction chemotherapy for early T-cell precursor acute lymphoblastic leukemia with the translocation t(6;11)(q27;q23)/KMT2A-AFDN: A case report.0
346381302022The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.0
345510642022Risk classification at diagnosis predicts post-HCT outcomes in intermediate-, adverse-risk, and KMT2A-rearranged AML.0
345506332022KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.0
345465432022All-trans retinoic acid induces differentiation in primary acute myeloid leukemia blasts carrying an inversion of chromosome 16.2
343047112022Loss of KMT2C reprograms the epigenomic landscape in hPSCs resulting in NODAL overexpression and a failure of hemogenic endothelium specification.1
333757732022Epigenetic changes in human model KMT2A leukemias highlight early events during leukemogenesis.2
352812332022Acute Lymphoblastic Leukaemia in the Youngest: Haematopoietic Stem Cell Transplantation and Beyond.0
352238532022Essential Functions of MLL1 and MLL2 in Retinal Development and Cone Cell Maintenance.0
351637372022Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.0
349304532021Daratumumab and venetoclax in combination with chemotherapy provide sustained molecular remission in relapsed/refractory CD19, CD20, and CD22 negative acute B lymphoblastic leukemia with KMT2A-AFF1 transcript.0
345433892021Defining the transcriptional control of pediatric AML highlights RARA as a superenhancer-regulated druggable dependency.1
345251852021Outcomes of acute lymphoblastic leukemia with KMT2A (MLL) rearrangement: the MD Anderson experience.0
351537692021Novel Compounds Synergize With Venetoclax to Target KMT2A-Rearranged Pediatric Acute Myeloid Leukemia.0
349727222022Synchronous Basal Cell Carcinoma and Squamous Cell Carcinoma of Nasal Vestibule With Novel Unique Variants Identified by Whole-exome Sequencing.0
349585102022'I Can't Keep Up!': an update on advances in soft tissue pathology occurring after the publication of the 2020 World Health Organization classification of soft tissue and bone tumours.0
349281382022Regulation of MLL1 Methyltransferase Activity in Two Distinct Nucleosome Binding Modes.0
348554612022CD123 Expression Is Associated With High-Risk Disease Characteristics in Childhood Acute Myeloid Leukemia: A Report From the Children's Oncology Group.2
348067732022Postnatal expression of the lysine methyltransferase SETD1B is essential for learning and the regulation of neuron-enriched genes.0
347851112022Minimal residual disease and outcome characteristics in infant KMT2A-germline acute lymphoblastic leukaemia treated on the Interfant-06 protocol.0
345514112022Adult Acute Myeloid Leukemia with the KMT2A-Mixed Lineage Leukemia T10 Fusion: An Analysis of 10 Cases Showed Common Features and Frequent Mutations in the RAS Signaling Pathway.0


Pubmed IDLast YearTitleAuthors
156267572005Diagnostic tool for the identification of MLL rearrangements including unknown partner genes.Meyer C et al
189833032008Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia.Park JS et al
189926432008MLL 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
159213752005Analysis 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
81238531994Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0).Stasi R et al


Atlas Image
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).


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

External Links