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t(10;11)(p11.2;q23)

Identity

Note 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

Clinics and Pathology

Disease acute non lymphoblastic leukemia (ANLL)
Phenotype / cell stem origin M4/M5
Epidemiology Only three cases reported to date: all infants (2M/1F).
Clinics Two boys aged 2 and 8 months respectively, achieved complete remission (1 yrs+, 5 yrs+), the newborn girl died soon for infection during induction.

Cytogenetics

 
  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 ABI-1
Location 10p11.2
Dna / Rna different splicings
Protein possesses a SH3 domain; cell growth inhibitor
Gene Name MLL
Location in 11q23
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

Result of the chromosomal anomaly

Hybrid gene
Description 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.
  
Fusion Protein
Description 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.
  

External links

Other databaset(10;11)(p11.2;q23) Mitelman database (CGAP - NCBI)
Other databaset(10;11)(p11.2;q23) CancerChromosomes (NCBI)

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.

Bibliography

ABI-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, Shibuya N, Taniwaki M, Hanada R, Morishita K, Bessho F, Yanagisawa M, Hayashi Y
Blood. 1998 ; 92 (4) : 1125-1130.
PMID 9694699
 
t(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, Taki T, Mugishima H, Chin M, Tsuchida M, Sako M, Kawa K, Ishii E, Miura I, Yanagisawa M, Hayashi Y
Genes, chromosomes & cancer. 2001 ; 32 (1) : 1-10.
PMID 11477655
 
Is t(10;11)(p11.2;q23) involving MLL and ABI-1 genes associated with congenital acute monocytic leukemia?
Morerio C, Rosanda C, Rapella A, Micalizzi C, Panarello C
Cancer genetics and cytogenetics. 2002 ; 139 (1) : 57-59.
PMID 12547160
 

Contributor(s)

Written04-2000Jean-Loup Huret
Updated01-2006Cristina Morerio, Claudio Panarello

Citation

This paper should be referenced as such :
Huret JL . t(10;11)(p11.2;q23). Atlas Genet Cytogenet Oncol Haematol. April 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/t1011ID1178.html
Morerio C, Panarello C . t(10;11)(p11.2;q23). Atlas Genet Cytogenet Oncol Haematol. January 2006 .
URL : http://AtlasGeneticsOncology.org/Genes/t1011ID1178.html

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indexed on : Wed Sep 24 21:07:15 2008


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