t(10;11)(p11.2;q23) KMT2A/ABI1

2006-01-01   Cristina Morerio , Cristina Morerio 

1.Dipartimento di Ematologia ed Oncologia Pediatrica, IRCCS Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy
2.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


acute myeloid leukemia (AML)

Phenotype stem cell origin



Only three cases reported to date: all infants (2M/1F).


Two boys aged 2 and 8 months respectively, achieved complete remission (1 yrs+, 5 yrs+), the newborn girl died soon for infection during induction.


Atlas Image
A. Partial Q-banded karyotype showing the t(10;11)(p11.2;q23), derivative chromosomes are on the right.
B. FISH using RP13-31H8 (ABI1) shows one signal on the normal chromosome 10 and the another one split between the p arm of der(10) (arrowheads) and the q arm of der(11) (arrow). The BAC clone was provided by Prof. M.Rocchi.

Genes Involved and Proteins

Gene name
ABI1 (Abl-Interactor 1)
Dna rna description
different splicings
Protein description
possesses a SH3 domain; cell growth inhibitor
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 ABI1; fusion at MLL exon 6-7.
The breakpoint of ABI1 gene is the same in the two cases studied (nucleotide 433), while the breakpoint of MLL can be located either in exon 6 or 7.1727 amino acids (1406 from MLL and 321 from ABI-1); NH2- AT-hook, DNA methyltransferase, and transcriptional repression domain of MLL, fused to the homeodomain homologous region and the SH3 domain of ABI-1 in COOH.

Highly cited references

Pubmed IDYearTitleCitations
306248592019Acute myeloid leukemia with t(10;11)(p11-12;q23.3): Results of Russian Pediatric AML registration study.2


Pubmed IDLast YearTitleAuthors
125471602002Is t(10;11)(p11.2;q23) involving MLL and ABI-1 genes associated with congenital acute monocytic leukemia?Morerio C et al
114776552001t(10;11)-acute leukemias with MLL-AF10 and MLL-ABI1 chimeric transcripts: specific expression patterns of ABI1 gene in leukemia and solid tumor cell lines.Shibuya N et al
96946991998ABI-1, a human homolog to mouse Abl-interactor 1, fuses the MLL gene in acute myeloid leukemia with t(10;11)(p11.2;q23).Taki T et al


Fusion gene

KMT2A/ABI1 KMT2A (11q23.3) ABI1 (10p12.1) COF 1864 1865 1866 1867|KMT2A/ABI1 KMT2A (11q23.3) ABI1 (10p12.1) TIC


must not be confused with the t(10;11)(p12;q23) involving AF10 in 10p12 and MLL, or the t(10;11)(p13;q14-21), also involving AF10, but with CALM on chromosome 11


Cristina Morerio ; Cristina Morerio

t(10;11)(p11.2;q23) KMT2A/ABI1

Atlas Genet Cytogenet Oncol Haematol. 2006-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1178/t(10;11)(p11-2;q23)

Historical Card

2000-04-01 t(10;11)(p11.2;q23) KMT2A/ABI1 by  Jean-Loup Huret 

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