t(4;21)(q31;q22) RUNX1/SH3D19
2007-08-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Acute myeloid leukaemia (AML)
Epidemiology
only one case to date, a 81 year old male patient with M1 AML
Prognosis
no data
Genes Involved and Proteins
Gene name
SH3D19 (SH3 domain containing 19)
Location
4q31.3
Protein description
adaptor protein; may play a role in the positive regulation of the activity of ADAMs (A disintegrin and metalloproteases)
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location
21q22.12
Protein description
Transcription factor (activator) for various hematopoietic-specific genes, which experssion is limited to hematopoetic stem cells, and endothelial cells and mesenchymal cells in the embryo; core binding factor family member which forms heterodimers with CBFB; binds to the core site 5 PyGPyGGTPy 3 of promotors and enhancers
Result of the Chromosomal Anomaly
Description
5 RUNX1 -3 SH3D19
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16858696 | 2006 | Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia. | Nguyen TT et al |
| 12615363 | 2003 | Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles. | Shimomura Y et al |
| 15280379 | 2004 | ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands. | Tanaka M et al |
Summary
Fusion gene
RUNX1/SH3D19 RUNX1 (21q22.12) SH3D19 (4q31.3) M t(4;21)(q31;q22)|RUNX1/SH3D19 RUNX1 (21q22.12) SH3D19 (4q31.3) TIC
Citation
Jean-Loup Huret
t(4;21)(q31;q22) RUNX1/SH3D19
Atlas Genet Cytogenet Oncol Haematol. 2007-08-01
Online version: http://atlasgeneticsoncology.org/haematological/1448/t(4
