ins(5;11)(q31;q13q23) KMT2A/AFF4

2003-06-01   Jean-Loup Huret 

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

Clinics and Pathology


acute lymphoblastic leukemia (ALL) and ALL evolving towards a M4- acute non lymphocytic leykemia (AML)

Phenotype stem cell origin



poorly defined: only 2 cases to date


a girl aged 4 mths, who entered complete remission, relapsed and died 20 mths after diagnosis, and a 3 mth old boy who had a 18 mths remission, developped relapses and died.


yet unknown, likely to be poor


Cytogenetics morphological

the chromosomal rearrangement may be hidden if only a small portion of chromosome 11 (with MLL) is transferred into chromosome 5 (in the vicinity of AF5Q31)

Cytogenetics molecular

the use of MLL probes can uncover the anomaly

Additional anomalies

i(17q) in one case, and a complex karyotype in the other case


a few cases of t(5;11)(q31;q23) have been described, but it is unknown if they involve the same genes

Genes Involved and Proteins

Gene name
AFF4 (ALL1 fused gene from chromosome 5q31)
Protein description
present homologies with AF4
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

Result of the Chromosomal Anomaly


5 MLL- 3 AF5q31


Pubmed IDLast YearTitleAuthors
127599322003Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia.Deveney R et al
105887401999AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23).Taki T et al


Fusion gene

KMT2A/AFF4 KMT2A (11q23.3) AFF4 (5q31.1) TIC


Jean-Loup Huret

ins(5;11)(q31;q13q23) KMT2A/AFF4

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version:;11)(q31;q13q23)

Historical Card

2000-04-01 ins(5;11)(q31;q13q23) KMT2A/AFF4 by  Jean-Loup Huret 

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