t(9;11)(q34;q23) KMT2A/DAB2IP

2005-08-01   Anne RM von Bergh  

1.Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

Clinics and Pathology

Disease

De novo AML M5

Epidemiology

Only one case to date, a 62 yr old male patient

Clinics

The patient presented with multi-organ failure due to leukostasis and infection. WBC was 248 x 109/L

Prognosis

Patient died within a few months after diagnosis

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
DAB2IP (DAB2 interacting protein)
Location
9q33.2
Dna rna description
14 exons stretched over an area of about 84 kb, 5192 bp mRNA
Protein description
967 amino acids; contains a GAP related domain (GRD), an FLR-motif, a Pleckstrin homology (PH) domain and a calcium/phospho-lipid-binding C2/CALB domain

Result of the Chromosomal Anomaly

Transcript

5 MLL - 3 AF9q34
Atlas Image

Description

MLL/AF9q34 contains the AT-hook, DNA-Methyltransferase, Zinc-Fingers domains of MLL and the entire GAP related domain (GRD) and the C2/CALB domain of AF9q34

Article Bibliography

Pubmed IDLast YearTitleAuthors

Summary

Fusion gene

KMT2A/DAB2IP KMT2A (11q23.3) DAB2IP (9q33.2) COF 1853 1854|KMT2A/DAB2IP KMT2A (11q23.3) DAB2IP (9q33.2) TIC

Note

Not to be confused with the t(9;11)(q34;q23), involving MLL and FBP17

Citation

Anne RM von Bergh

t(9;11)(q34;q23) KMT2A/DAB2IP

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1197/favicon/img/hgnc