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 |
Mitelman database | t(3;18)(q26;q11) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9989/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
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 : Mon Dec 14 18:25:42 CET 2020 |
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