t(1;11)(q21;q23) KMT2A/MLLT11

2005-11-01   Marie-Agnés Collonge-Rame 

1.Service de Génétique, Histologie, Biologie du Développement et de la Reproduction.CHU - Place St Jacques, 25030 Besanon Cedex, France
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


AML, ALL at times

Phenotype stem cell origin

30 cases were reported. 25 of them were AML: mostly M4/M5 (16), 2 M1, 1 M2, 3 secondary (s) LAM, in 3 cases FAB type were not described. The other cases were : 2 ALL, 1 biphenotypic ALL, 1 sALL and 1 sMSD.


most cases were infants (10/23) and children (7/23) , range is 4 months - 62 years, balanced sex ratio (14F/12M on 26 cases).


Yet unknown


Cytogenetics morphological

presents as der(11)t(1;11)(q21;q23) in 9 of the 30 cases. Unbalanced form is identified in the 4 ALL and in all of the secondary cases.

Additional anomalies

balanced translocation is present as sole anomaly in 16/21 cases, and as part of simple karyotype in 5/21 cases ;+ 19, +22 were recurrent. Additional abnormalities were observed in 8 of the 9 cases showing the der (11); karyotype of 5 cases were highly complex.


two three-way translocations were identified : t(1;11;3)(q21;q23;q21) and t(1;11;4)(q21;q23;p16).

Genes Involved and Proteins

Gene name
MLLT11 (ALL1 fused gene from chromosome 1q)
Dna rna description
1.8 kb mRNA
Protein description
9 kDa
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
Protein description
transcriptional regulatory factor; nuclear localisation

Result of the Chromosomal Anomaly


5 MLL-3 AF1q; breakpoints: between exons 6 and 7 in MLL andwithin the 5 untranslated region in AF1qN-term -- AT hook (DNA binding) and DNA methyltransferase motiffrom MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame.

Highly cited references

Pubmed IDYearTitleCitations
302771152019Panoramic view of common fusion genes in a large cohort of Chinese de novo acute myeloid leukemia patients.9


Pubmed IDLast YearTitleAuthors
100259071999MLL-AF1q fusion resulting from t(1;11) in acute leukemia.Busson-Le Coniat M et al
95932861998Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.Harrison CJ et al
27026261989Translocation t(1;11)(q21;q23), a new subgroup within M4 acute nonlymphocytic leukemia.Meloni-Balliet AM et al
107008612000Analysis of MLL-derived transcripts in infant acute monocytic leukemia with a complex translocation (1;11;4)(q21;q23;p16).So CW et al
78334681995A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.Tse W et al


Fusion gene

KMT2A/MLLT11 KMT2A (11q23.3) MLLT11 (1q21.3) COF 1965 1977 1979 1980 1981 1982|KMT2A/MLLT11 KMT2A (11q23.3) MLLT11 (1q21.3) TIC
Atlas Image
t(1;11)(q21;q23) G- banding: - Courtesy Charles D. Bangs; R-banding: middle right: - Courtesy Christiane Charrin; right and FISH using the LSI MLL breakapart probe (Vysis, Inc) - Courtesy Karolien Beel, Peter Meeus and Lucienne Michaux, CME, UZ Leuven


Marie-Agnés Collonge-Rame

t(1;11)(q21;q23) KMT2A/MLLT11

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/haematological/1004/t(1;11)(q21;q23)

Historical Card

1998-04-01 t(1;11)(q21;q23) KMT2A/MLLT11 by  Jean-Loup Huret 

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