| Clinics and Pathology |
| Disease | Chronic myelogenous leukaemia with t(9;22)(q34;q11) |
| Epidemiology | Only one case to date, a 74 year old female patient |
| Prognosis | No data |
| Cytogenetics |
| Cytogenetics Morphological | Anomaly accompanying the t(9;22)(q34;q11) |
| Genes involved and Proteins |
| Note | The partner of EVI1 is yet unknown. |
| Gene Name | EVI1 |
| Location | 3q26.2 |
| Protein | Transcrition factor; EVI1 targets include:GATA2, ZBTB16 /PLZF, ZFPM2/FOG2, JNK and the PI3K/AKT pathway. Role in cell cycle progression, likely to be cell-type dependant; antiapoptotic factor; involved in neuronal development organogenesis; role in hematopoietic differsntiation |
| External links |
| Other database | inv(3)(p12q26) | Mitelman database (CGAP - 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 |
| EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements. |
| Poppe B, Dastugue N, Vandesompele J, Cauwelier B, De Smet B, Yigit N, De Paepe A, Cervera J, Recher C, De Mas V, Hagemeijer A, Speleman F |
| Genes, chromosomes & cancer. 2006 ; 45 (4) : 349-356. |
| PMID 16342172 |
| The oncogene and developmental regulator EVI1: expression, biochemical properties, and biological functions. |
| Wieser R |
| Gene. 2007 ; 396 (2) : 346-357. |
| PMID 17507183 |
| Contributor(s) |
| Written | 06-2007 | 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 . inv(3)(p12q26). Atlas Genet Cytogenet Oncol Haematol. June 2007 . URL : http://AtlasGeneticsOncology.org/Genes/inv3p12q26ID1275.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:03 2008 |
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