| 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 | 9989/3 Myelodysplastic syndrome, unclassifiable |
| Atlas_Id | 1283 |
| Clinics and Pathology |
| Disease | Myelodysplastic syndrome |
| Epidemiology | Only one case to date, a 73 year old female patient |
| Prognosis | No data |
| Cytogenetics |
| Cytogenetics Morphological | There was also a del(5q) |
| Genes involved and Proteins |
| Note | The partner of EVI1 is yet unknown. |
| Gene Name | MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-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 |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(3;18)(q26;q11) |
| Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):349-349. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0318q26q11ID1283.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(3;18)(q26;q11) ?/MECOM | |
| External links |
| 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 : Wed Nov 28 16:18:19 CET 2018 |
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