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

Written2007-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1448

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
Location 4q31
Protein adaptor protein; may play a role in the positive regulation of the activity of ADAMs (A disintegrin and metalloproteases)
Gene Name RUNX1
Location 21q22
Protein 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

Hybrid gene
Description 5' RUNX1 -3' SH3D19
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia.
Nguyen TT, Ma LN, Slovak ML, Bangs CD, Cherry AM, Arber DA
Genes, chromosomes & cancer. 2006 ; 45 (10) : 918-932.
PMID 16858696
 
Gene expression of Sh3d19, a novel adaptor protein with five Src homology 3 domains, in anagen mouse hair follicles.
Shimomura Y, Aoki N, Ito K, Ito M
Journal of dermatological science. 2003 ; 31 (1) : 43-51.
PMID 12615363
 
ADAM binding protein Eve-1 is required for ectodomain shedding of epidermal growth factor receptor ligands.
Tanaka M, Nanba D, Mori S, Shiba F, Ishiguro H, Yoshino K, Matsuura N, Higashiyama S
The Journal of biological chemistry. 2004 ; 279 (40) : 41950-41959.
PMID 15280379
 

Citation

This paper should be referenced as such :
Huret, JL
t(4;21)(q31;q22)
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):350-350.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0421q31q22ID1448.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(4;21)(q31;q22) RUNX1/SH3D19

External links

RUNX1 (21q22.12) SH3D19 (4q31.3)

RUNX1 (21q22.12) SH3D19 (4q31.3)

Mitelman databaset(4;21)(q31;q22) [Case List]    t(4;21)(q31;q22) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseRUNX1/SH3D19 [MCList]  RUNX1 (21q22.12) SH3D19 (4q31.3)
TICdbRUNX1/SH3D19  RUNX1 (21q22.12) SH3D19 (4q31.3)
 
Disease databaset(4;21)(q31;q22) RUNX1/SH3D19
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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jlhuret@AtlasGeneticsOncology.org.