Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated1998-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1071
Note two different translocations (and two clinical entities), both involving 11q23 with a common breakpoint in MLL, and 19p13 with different breakpoints are now identified: the above mentioned, and the t(11;19)(q23;p13.1)
  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: – 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) – Courtesy Adriana Zamecnikova..

Clinics and Pathology

Disease ALL, AML
Phenotype / cell stem 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
Epidemiology 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
Clinics organomegaly, frequent CNS involvement (in B-cell/biphenotypic cases);
blood data: high WBC
Treatment BMT is indicated
Prognosis very poor (median < 1 yr), except in the rare T-cell cases, who are, so far, long survivors.



Cytogenetics Morphological can be seen with G-banding: chromosome 11 appears shortened, chromosome 19 enlarged (11q- and 19p+); will be missed with R-banding
Cytogenetics Molecular ... therefore, FISH may be needed
Additional anomalies none in most cases; +X may be found in male and female patients; +6, +8, +19
Variants three way complex t(11;19;Var) exist, as well as complex rearrangements and inversions, and are frequent); they demonstrated that the crucial event lies on der(11)

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 21 exons, spanning over 100 kb; 13-15 kb mRNA
Protein 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 NameMLLT1 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1)
Location 19p13.3
Protein serine/proline; contains a nuclear targeting sequence; wide expression; nuclear localisation; transcription activator

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' ENL
Fusion Protein
Expression Localisation AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL

To be noted

1- shortly, both t(11;19): have a breakpoint in MLL in 11q23, a very poor prognosis, and may, in some cases be treatment related leukaemias; but, while the above described has a breakpoint in 19p13.3, can be seen with G-banding (11q- and 19p+) and missed with R-banding, involves ENL, and can be found in ALL, biphenotypic leukaemias, and AML, the translocation with a breakpoint in 19p13.1 involves ELL, is found with R-banding (11q+ and 19p-) and missed with G-banding, and only in AML; 2- you may also have a glance at 11q23 rearrangements, which gives an overview of related diseases sharing 11q23 involvement


Cytogenetic heterogeneity in t(11;19) acute leukemia: clinical, hematological and cytogenetic analyses of 48 patients--updated published cases and 16 new observations.
Huret JL, Brizard A, Slater R, Charrin C, Bertheas MF, Guilhot F, Hählen K, Kroes W, van Leeuwen E, Schoot EV
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1993 ; 7 (2) : 152-160.
PMID 8426468
Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias.
Tkachuk DC, Kohler S, Cleary ML
Cell. 1992 ; 71 (4) : 691-700.
PMID 1423624


This paper should be referenced as such :
Huret JL
t(11;19)(q23;p13.3) KMT2A/MLLT1;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :
History of this paper:
Huret, JL. t(11;19)(q23;p13.3). Atlas Genet Cytogenet Oncol Haematol. 1999;3(1):34-35.

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;19)(q23;p13.3) KMT2A/MLLT1

External links

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

Mitelman databaset(11;19)(q23;p13.3) [Case List]    t(11;19)(q23;p13.3) [Transloc-MCList] KMT2A/MLLT1 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9813/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
TICdbKMT2A/MLLT1  KMT2A (11q23.3) MLLT1 (19p13.3)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Feb 19 18:20:31 CET 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us