t(10;11)(p11.2;q23) KMT2A/ABI1
2006-01-01 Cristina Morerio , Cristina Morerio Affiliation1.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
Disease
acute myeloid leukemia (AML)
Phenotype stem cell 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
ABI1 (Abl-Interactor 1)
Location
10p12.1
Dna rna description
different splicings
Protein description
possesses a SH3 domain; cell growth inhibitor
Gene name
KMT2A (myeloid/lymphoid or mixed lineage leukemia)
Location
11q23.3
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
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 7.1727 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.
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 ID | Year | Title | Citations |
|---|---|---|---|
| 30624859 | 2019 | Acute myeloid leukemia with t(10;11)(p11-12;q23.3): Results of Russian Pediatric AML registration study. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12547160 | 2002 | Is t(10;11)(p11.2;q23) involving MLL and ABI-1 genes associated with congenital acute monocytic leukemia? | Morerio C et al |
| 11477655 | 2001 | 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 et al |
| 9694699 | 1998 | 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 et al |
Summary
Fusion gene
KMT2A/ABI1 KMT2A (11q23.3) ABI1 (10p12.1) COF 1864 1865 1866 1867|KMT2A/ABI1 KMT2A (11q23.3) ABI1 (10p12.1) TIC
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
Citation
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
Historical Card
2000-04-01 t(10;11)(p11.2;q23) KMT2A/ABI1 by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
