t(4;21)(q31;q22) RUNX1/SH3D19

2007-08-01   Jean-Loup Huret 

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

Clinics and Pathology


Acute myeloid leukaemia (AML)


only one case to date, a 81 year old male patient with M1 AML


no data

Genes Involved and Proteins

Gene name
SH3D19 (SH3 domain containing 19)
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))
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


5 RUNX1 -3 SH3D19


Pubmed IDLast YearTitleAuthors
168586962006Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia.Nguyen TT et al
126153632003Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles.Shimomura Y et al
152803792004ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands.Tanaka M et al


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


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;21)(q31;q22)