t(11;19)(q23;p13.3) KMT2A/MLLT1

1998-12-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology



Phenotype stem cell origin

B-cell ALL: L1/L2 CD19+, CD10- most often;
biphenotypic: CD19+ (B-cell) as well, but also with myeloid markers;
AML: M4/M5 mainly;
therapy related AL;
T-cell ALL at times


most cases are found in infants < 1 yr (congenital leukaemia), whatever the phenotype except in T-cell cases (children cases); such a feature is particularly stricking; most female cases exhibit a B-lineage or biphenotypic phenotype, most male cases are M4/M5 cases


organomegaly, frequent CNS involvement (in B-cell/biphenotypic cases);
blood data: high WBC


BMT is indicated


very poor (median < 1 yr), except in the rare T-cell cases, whoare, so far, long survivors.



Cytogenetics morphological

can be seen with G-banding: chromosome 11appears shortened, chromosome 19 enlarged (11q- and 19p+); will be missedwith R-banding

Cytogenetics molecular

... therefore, FISH may be needed

Additional anomalies

none in most cases; +X may be found in male and femalepatients; +6, +8, +19


three way complex t(11;19;Var) exist, as well as complexrearrangements and inversions, and are frequent); they demonstrated thatthe crucial event lies on der(11)

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein description
431 kDa; contains two DNA binding motifs (a AT hook, and Zinc fingers), a DNA methyl transferase motif, a bromodomain; transcriptional regulatory factor; nuclear localisation
Gene name
MLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1)
Protein description
serine/proline; contains a nuclear targeting sequence;
Protein description
wide expression; nuclear localisation; transcription activator

Result of the Chromosomal Anomaly


5 MLL - 3 ENL

Expression localisation

AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL

Highly cited references

Pubmed IDYearTitleCitations
302035712018KMT2A (MLL) rearrangements observed in pediatric/young adult T-lymphoblastic leukemia/lymphoma: A 10-year review from a single cytogenetic laboratory.12
246901002014NOTCH1 mutations are associated with favourable long-term prognosis in paediatric T-cell acute lymphoblastic leukaemia: a retrospective study of patients treated on BCH-2003 and CCLG-2008 protocol in China.9
324148482021Combinatorial efficacy of entospletinib and chemotherapy in patient-derived xenograft models of infant acute lymphoblastic leukemia.5
266488362015Cytogenetic and Molecular Findings in Children with Acute Lymphoblastic Leukemia: Experience of a Single Institution in Argentina.3
339658802021Chimeric antigen receptor T cells targeting CD7 in a child with high-risk T-cell acute lymphoblastic leukemia.2
329921022020First report of t(5;11) KMT2A-MAML1 fusion in de novo infant acute lymphoblastic leukemia.1
308099812019The Incidence and Immunophenotypic and Genetic Features of JL1 Expressing Cells and the Therapeutic Potential of an Anti-JL1 Antibody in De Novo Pediatric Acute Leukemias.1
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
359333382022Poor treatment responses were related to poor outcomes in pediatric B cell acute lymphoblastic leukemia with KMT2A rearrangements.0
309744452019A New Complex Karyotype Involving a KMT2A-r Variant Three-Way Translocation in a Rare Clinical Presentation of a Pediatric Patient with Acute Myeloid Leukemia.0
283322622017Haploidentical peripheral blood stem cell transplantation without irradiation or busulfan after reduced-intensity conditioning for KMT2A(MLL)-rearranged infant B-cell precursor acute lymphoblastic leukemia: Report of two cases.0


No bibliography items were found for this article.


Fusion gene

KMT2A/MLLT1 KMT2A (11q23.3) MLLT1 (19p13.3) TIC


two different translocations (and two clinical entities), bothinvolving 11q23 with a common breakpoint in MLL, and 19p13 with differentbreakpoints are now identified: the above mentioned, and thet(11;19)(q23;p13.1)
Atlas Image
t(11;19)(q23;p13.3) KMT2A/MLLT1 G-banding; left: Courtesy Jean-Luc Lai; second and third: Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services: the three on the right: u2013 Courtesy Adriana Zamecnikova. Fluorescence in situ hybridization with the Vysis LSI MLL (KMT2A) break apart probe (Abbott Molecular, US) showing translocation of MLL sequences to der(19) chromosome (red signal) (A). Hybridization with Kreatech KMT2A/MLLT1 probe showing 2 green and 2 red signals on normal metaphase (left) and fusion signals on der(11) and der(19) chromosomes (right) (B) u2013 Courtesy Adriana Zamecnikova..


Jean-Loup Huret

t(11;19)(q23;p13.3) KMT2A/MLLT1

Atlas Genet Cytogenet Oncol Haematol. 1998-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1071/t(11;19)(q23;p13-3)

Historical Card

1997-12-01 t(11;19)(q23;p13.3) KMT2A/MLLT1 by  Jean-Loup Huret,Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France