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

Written1998-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2005-11Marie-Agnés Collonge-Rame
Service de Génétique, Histologie, Biologie du Développement et de la Reproduction.CHU - Place St Jacques, 25030 Besanon Cedex, 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
Atlas_Id 1004
  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

Clinics and Pathology

Disease AML, ALL at times
Phenotype / cell stem 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.
Epidemiology most cases were infants (10/23) and children (7/23) , range is 4 months - 62 years, balanced sex ratio (14F/12M on 26 cases).
Prognosis 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.
Variants 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 NameMLLT11 (ALL1 fused gene from chromosome 1q)
Location 1q21.3
Dna / Rna 1.8 kb mRNA
Protein 9 kDa
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 transcriptional regulatory factor; nuclear localisation

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-3' AF1q; breakpoints: between exons 6 and 7 in MLL and within the 5' untranslated region in AF1q
Fusion Protein
Description N-term -- AT hook (DNA binding) and DNA methyltransferase motif from MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame.


MLL-AF1q fusion resulting from t(1;11) in acute leukemia.
Busson-Le Coniat M, Salomon-Nguyen F, Hillion J, Bernard OA, Berger R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (2) : 302-306.
PMID 10025907
Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants.
Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 811-822.
PMID 9593286
Translocation t(1;11)(q21;q23), a new subgroup within M4 acute nonlymphocytic leukemia.
Meloni-Balliet AM, Morgan R, Piatt J, Sandberg AA
Cancer genetics and cytogenetics. 1989 ; 37 (2) : 269-271.
PMID 2702626
Analysis of MLL-derived transcripts in infant acute monocytic leukemia with a complex translocation (1;11;4)(q21;q23;p16).
So CW, Ma SK, Wan TS, Chan GC, Ha SY, Chan LC
Cancer genetics and cytogenetics. 2000 ; 117 (1) : 24-27.
PMID 10700861
A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.
Tse W, Zhu W, Chen HS, Cohen A
Blood. 1995 ; 85 (3) : 650-656.
PMID 7833468


This paper should be referenced as such :
Collonge-Rame, MA
Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):125-126.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. t(1;11)(q21;q23). Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):100-100.

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;11)(q21;q23) KMT2A/MLLT11

External links

KMT2A (11q23.3) MLLT11 (1q21.3)

KMT2A (11q23.3) MLLT11 (1q21.3)

Mitelman databaset(1;11)(q21;q23) [Case List]    t(1;11)(q21;q23) [Transloc-MCList] KMT2A/MLLT11 [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]
COSMIC_fusionKMT2A/MLLT11 KMT2A (11q23.3) MLLT11 (1q21.3)   [fusion1965]   [fusion1977]   [fusion1979]   [fusion1980]   [fusion1981]   [fusion1982]  
TICdbKMT2A/MLLT11  KMT2A (11q23.3) MLLT11 (1q21.3)
REVIEW articlesautomatic search in PubMed
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