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

1997-12-01   Jean-Loup Huret , 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

M4/M5 most often; M1/M2 at times; therapyrelated AL; however, clonal rearrangements of IgH gene have been found,demonstrating a biphenotypic nature


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


organomegaly in half cases; CNS involvement in some cases


BMT is indicated


very poor (median: 6 mths!)


Cytogenetics morphological

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

Cytogenetics molecular

... therefore, FISH may be needed

Additional anomalies

none at diagnosis in 2/3 cases; +8

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 , localisation; transcription factor (RNA polymerase elongation factor)
Gene name
ELL (eleven nineteen lysin rich leukemia gene)
Protein description
contains a Lysin rich domain (basic motif); nuclear

Result of the Chromosomal Anomaly


5 MLL - 3 ELLAT hook and DNA methyltransferase from MLL fused to most of ELL

Expression localisation

nuclear localisation


potential transcription factor


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Fusion gene

KMT2A/ELL KMT2A (11q23.3) ELL (19p13.11) COF 1988 1989 1990 1991 1992 1993 1994 1995 1996 1997|KMT2A/ELL KMT2A (11q23.3) ELL (19p13.11) 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;p13.3)
Atlas Image
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.


Jean-Loup Huret ; Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 1997-12-01

Online version: http://atlasgeneticsoncology.org/haematological/1029/t(11;19)(q23;p13-1)

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