t(3;11)(p21;q23) KMT2A/NCKIPSD

2000-02-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

treatment related acute myeloid leukemia (t-AML)

Phenotype stem cell origin

M5b AML

Epidemiology

only one case; a female patient aged 23 yrs and treated 9 years ago for T-ALL

Prognosis

unknown; likely to be poor, both as it carries a MLL rearrangements and as occurs in t-AML

Genes Involved and Proteins

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
Gene name
NCKIPSD (NCK interacting protein with SH3 domain)
Location
3p21.31

Result of the Chromosomal Anomaly

Description

breakpoints of MLL between exons 9 and 10 and upstream of exon 1 of the AF3p21 geneAT hooks and methyltransferase domains of MLL in the N-term fused to the proline-rich domain and nuclear localization signal of AF3p21

Bibliography

No bibliography items were found for this article.

Summary

Fusion gene

KMT2A/NCKIPSD KMT2A (11q23.3) NCKIPSD (3p21.31) COF 1944 1946|KMT2A/NCKIPSD KMT2A (11q23.3) NCKIPSD (3p21.31) TIC
Atlas Image
t(3;11)(p21;q23) G- banding - Courtesy Diane H. Norback, Eric B.Johnson, Sara Morrison-Delap UW Cytogenetic Services.

Citation

Jean-Loup Huret

t(3;11)(p21;q23) KMT2A/NCKIPSD

Atlas Genet Cytogenet Oncol Haematol. 2000-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1165/t(3;11)(p21;q23)

External Links