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t(11;19)(q23;p13.1) KMT2A/ELL

Written1997-12Jean-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 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
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 1029
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;p13.3)
  t(11;19)(q23;p13.1); G- banding (left and center) and R- banding (right) (top: - Editor; below: G- banding - Courtesy H. Norback, Eric B. Johnson, Sara Morrison-Delap UW Cytogenetic Services and R- banding - Courtesy Christiane Charrin).

Clinics and Pathology

Disease AML
Phenotype / cell stem origin M4/M5 most often; M1/M2 at times; therapy related AL; however, clonal rearrangements of IgH gene have been found, demonstrating a biphenotypic nature
Epidemiology children and, most often, adults (7 days to 83 yrs); congenital cases are rare, in contrast with the t(11;19)(q23;p13.3) leukaemia; balanced sex ratio
Clinics organomegaly in half cases; CNS involvement in some cases
Treatment BMT is indicated
Prognosis very poor (median: 6 mths!)


Cytogenetics Morphological can be seen with R-banding: chromosome 11 appears enlarged, chromosome 19 shortened (11q+ and 19p-); will be missed with G-banding
Cytogenetics Molecular ... therefore, FISH may be needed
  LAM5B ; caryotype : 46,XX,t(11;19)(q23;p13.1); in situ hybridization with a 19 whole chromosome paint probe (spectrum green ) and a MLL dual color break apart rearrangement probe; the der(19) is WCP19-spectrum green+ and 3'-MLL spectrum orange+ - Courtesy Pascaline Talmant
Additional anomalies none at diagnosis in 2/3 cases; +8

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 NameELL (eleven nineteen lysin rich leukemia gene)
Location 19p13.11
Protein contains a Lysin rich domain (basic motif); nuclear localisation; transcription factor (RNA polymerase elongation factor)

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL - 3' ELL
Fusion Protein
Description AT hook and DNA methyltransferase from MLL fused to most of ELL
Expression Localisation nuclear localisation
Oncogenesis potential transcription factor

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 19p13.1, is found only in AML, involves ELL, is diagnosed with R-banding (11q+ and 19p-) and missed with G-banding, the translocation with 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; 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
Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation.
Mitani K, Kanda Y, Ogawa S, Tanaka T, Inazawa J, Yazaki Y, Hirai H
Blood. 1995 ; 85 (8) : 2017-2024.
PMID 7718874


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):104-105.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;19)(q23;p13.1) KMT2A/ELL

External links

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

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

Mitelman databaset(11;19)(q23;p13.1) [Case List]    t(11;19)(q23;p13.1) [Transloc-MCList] KMT2A/ELL [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 ( 9813/3) -   [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]
COSMIC_fusionKMT2A/ELL KMT2A (11q23.3) ELL (19p13.11)   [fusion1988]   [fusion1989]   [fusion1990]   [fusion1991]   [fusion1992]   [fusion1993]   [fusion1994]   [fusion1995]   [fusion1996]   [fusion1997]  
TICdbKMT2A/ELL  KMT2A (11q23.3) ELL (19p13.11)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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