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t(2;11)(q11;q23) KMT2A::AFF3

Written2005-08Anne RM von Bergh
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)


ICD-Morpho 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged
Atlas_Id 1196

Clinics and Pathology

Disease Acute lymplocytic leukemia (ALL) with proB phenotype
Epidemiology Three cases reported to date, two infants and one two-year-old child
Prognosis Both cases of infant ALL showed a poor survival, 2 and 9 months respectively. The third case, a two-year-old child, achieved complete remission.


Cytogenetics Molecular The three reported cases carried different rearrangements involving chromosomes 2 and 11: t(2;11)(p15;p14), t(2;11)(q11;q23) and ins(11;2)(q23;q11.2q11.2).

Genes involved and Proteins

Gene NameKMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location 11q23.3
Dna / Rna 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 NameAFF3 (lymphoid nuclear protein related to AF4)
Location 2q11.2
Note AF4 and AF5q31, also known as MLL fusion partners, belong to the same gene family
Dna / Rna 22 exons, transcript length: 3855 bp
Protein LAF4 protein (Lymphoid nuclear protein related to AF4) 1226 amino acids; 133734 Da

Result of the chromosomal anomaly

Hybrid gene
Transcript 5' MLL - 3' LAF4
Fusion Protein
  Schematic representation of MLL, LAF4, and the putative MLL-LAF4 fusion protein. MT, methyltransferase domain; TRX, Drosophila trithorax homology; NHD, N-terminal homology domain; TAD, transactivation domain; NLS, nuclear localization sequence; CHD, C-terminal homology domain.
Description The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Occurrence of an MLL/LAF4 fusion gene caused by the insertion ins(11;2)(q23;q11.2q11.2) in an infant with acute lymphoblastic leukemia.
Bruch J, Wilda M, Teigler-Schlegel A, Harbott J, Borkhardt A, Metzler M
Genes, chromosomes & cancer. 2003 ; 37 (1) : 106-109.
PMID 12661012
Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).
Hiwatari M, Taki T, Taketani T, Taniwaki M, Sugita K, Okuya M, Eguchi M, Ida K, Hayashi Y
Oncogene. 2003 ; 22 (18) : 2851-2855.
PMID 12743608
LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias.
Ma C, Staudt LM
Blood. 1996 ; 87 (2) : 734-745.
PMID 8555498
LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia.
von Bergh AR, Beverloo HB, Rombout P, van Wering ER, van Weel MH, Beverstock GC, Kluin PM, Slater RM, Schuuring E
Genes, chromosomes & cancer. 2002 ; 35 (1) : 92-96.
PMID 12203795


This paper should be referenced as such :
von Bergh, ARM
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):12-13.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes AFF3 KMT2A

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;11)(q11;q23) KMT2A/AFF3

External links

KMT2A (11q23.3) AFF3 (2q11.2)

KMT2A (11q23.3) AFF3 (2q11.2)

Mitelman databaset(2;11)(q11;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9807/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [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]
COSMIC_fusionKMT2A/AFF3 KMT2A (11q23.3) AFF3 (2q11.2)   [fusion1784]   [fusion1785]   [fusion1816]   [fusion2030]   [fusion2031]   [fusion2032]  
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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