| Clinics and Pathology |
| Disease | Acute myeloid leukemia (AML) |
| Phenotype / cell stem origin | M0 AML |
| Epidemiology | Only one case to date, a 7 year old boy |
| Evolution | The patient relapsed; however, he is still alive,with a bone marrow graft, 10 years after diagnosis. |
| Genes involved and Proteins |
| Gene Name | UPS42 |
| Protein | USP42 (ubiquitin specific protease 42), belongs to the ubiquitin specific protease family. Ubiquitins are highly conserved proteins. Ubiquitins target proteins for degradation in the proteasome. Some USPs, however, act in the opposite reaction. These ubiquitin specific proteases (cysteine proteases) are also called deubiquitinating enzymes. They cleave ubiquitin from ubiquitin-conjugated target proteins and may lead to protein stabilization. Usp42 can cleave ubiquitin from ubiquitinated substrates. Usp42 seems to be a deubiquitinating enzyme. It may play an important role in mouse embryogenesis. |
| 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 |
| Description | 5' RUNX1- 3' UPS42 |
| External links |
| Other database | t(7;21)(p22;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(7;21)(p22;q22) | CancerChromosomes (NCBI) |
| 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 |
| A novel and cytogenetically cryptic t(7;21)(p22;q22) in acute myeloid leukemia results in fusion of RUNX1 with the ubiquitin-specific protease gene USP42. |
| Paulsson K, Bˆ©kˆ°ssy AN, Olofsson T, Mitelman F, Johansson B, Panagopoulos I |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2006 ; 20 (2) : 224-229. |
| PMID 16357831 |
| The expression of Usp42 during embryogenesis and spermatogenesis in mouse. |
| Kim YK, Kim YS, Yoo KJ, Lee HJ, Lee DR, Yeo CY, Baek KH |
| Gene expression patterns : GEP. 2007 ; 7 (1-2) : 143-148. |
| PMID 16904385 |
| Contributor(s) |
| Written | 10-2007 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(7;21)(p22;q22). Atlas Genet Cytogenet Oncol Haematol. October 2007 . URL : http://AtlasGeneticsOncology.org/Genes/t0721p22q22ID1449.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Sep 5 17:09:46 2008 |
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