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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) KMT2A/ELL G- banding (left and center) and R- banding (right). G- banding frist and second row - Courtesy H. Norback, Eric B. Johnson, Sara Morrison-Delap UW Cytogenetic Services; third row. Courtesy Adriana Zamecnikova; and R- banding top: Jean Loup Huret; second row - Courtesy Christiane Charrin); Top right: In situ hybridization with a 19 whole chromosome paint probe (spectrum green ) and a KMT2A (MLL) dual color break apart rearrangement probe; the der(19) is WCP19-spectrum green+ and 3'-MLL spectrum orange+ - Courtesy Pascaline Talmant; Bottom: 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 translocation of MLL sequences to der(19) with relocation of 19p13.3 sequences distal to residual MLL gene (right) (B). Courtesy Adriana Zamecnikova.

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
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)
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]  
REVIEW articlesautomatic search in PubMed
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