t(3;11)(p21;q23) KMT2A/NCKIPSD
2000-02-01 Jean-Loup Huret Affiliation1.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
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)-kmt2a-nckipsd
