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

2005-08-01   Anne RM von Bergh 

1.Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

Clinics and Pathology


Acute lymplocytic leukemia (ALL) with proB phenotype


Three cases reported to date, two infants and one two-year-old child


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.

Genes Involved and Proteins

Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Dna rna description
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
Gene name
AFF3 (lymphoid nuclear protein related to AF4)
AF4 and AF5q31, also known as MLL fusion partners, belong to the same gene family
Dna rna description
22 exons, transcript length: 3855 bp
Protein description
LAF4 protein (Lymphoid nuclear protein related to AF4) 1226 amino acids; 133734 Da

Result of the Chromosomal Anomaly


5 MLL - 3 LAF4
Atlas Image
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.


The MLL-LAF4 fusion protein includes the transactivation domain of LAF4 that is part of the AF4/LAF4/FMR2 homology domain.

Highly cited references

Pubmed IDYearTitleCitations
349958972022A complex KMT2A::AFF3 fusion resulting from a three-way chromosomal rearrangement in pediatric B lymphoblastic leukemia.0


Pubmed IDLast YearTitleAuthors
126610122003Occurrence 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 et al
127436082003Fusion of an AF4-related gene, LAF4, to MLL in childhood acute lymphoblastic leukemia with t(2;11)(q11;q23).Hiwatari M et al
85554981996LAF-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 et al
122037952002LAF4, an AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia.von Bergh AR et al


Fusion gene

KMT2A/AFF3 KMT2A (11q23.3) AFF3 (2q11.2) COF 1784 1785 1816 2030 2031 2032|KMT2A/AFF3 KMT2A (11q23.3) AFF3 (2q11.2) TIC


Anne RM von Bergh

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

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1196/t(2;11)(q11;q23)