| Written | 2007-08 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 (SH3 domain containing 19) |
| Location | 4q31.3 |
| Protein | 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 | 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 |
| 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 |
| Mitelman database | t(4;21)(q31;q22) [Case List] t(4;21)(q31;q22) [Transloc-MCList] RUNX1/SH3D19 [Fusion-MCList] |
| arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | RUNX1/SH3D19 [MCList] RUNX1 (21q22.12) SH3D19 (4q31.3) |
| TICdb | RUNX1/SH3D19 RUNX1 (21q22.12) SH3D19 (4q31.3) |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Nov 6 14:02:58 CET 2018 |
For comments and suggestions or contributions, please contact us