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t(2;3)(p21;q26) THADA/MECOM

Written2013-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

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 1665
Note This translocation is found in a subset of cases described in the card t(2;3)(p15-23;q26-27). Other subsets involve other genes, such as BCL11A in the t(2;3)(p16;q26) BCL11A/MECOM.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Epidemiology One case to date, a 59-year old male patient with a M4-AML (Trubia et al., 2006).
Prognosis Clinical outcome in cases with the t(2;3)(p16;q26) BCL11A/MECOM and the case with the t(2;3)(p21;q26) THADA/MECOM (plotted together) was severe: "One patient is alive with active disease at 12 months, five patients died after 4-14 months" (Trubia et al., 2006).

Genetics

MECOM was overexpressed.

Cytogenetics

Cytogenetics Morphological The t(2;3)(p21;q26) was the sole anomaly.

Genes involved and Proteins

Gene Name THADA
Location 2p21
Protein THADA is assumed to be involved it in the TRAIL-induced apoptosis. Truncated THADA have been found in thyroid adenomas; it would compete with normal THADA, thereby disturbing normal apoptosis of follicular cells (Rippe et al., 2003; Kloth et al., 2011).
Gene Name MECOM
Location 3q26
Note MECOM is also known as EVI1 or PRDM3; MECOM symbol means: "MDS1 and EVI1 complex locus".
Protein "EVI1" contains two domains of seven and three zinc finger motifs, respectively, a repression domain between the two sets of zinc fingers, and an acidic domain at its C-term. Sequence specific DNA binding protein. Interacts with transcriptional coactivators, corepressors, and other sequence specific transcription factors. MECOM ("MDS1-EVI1") also contains a PR domain from "MDS1" in N-term (Wieser, 2008).

Result of the chromosomal anomaly

Hybrid gene
Description Regulatory sequences were transferred telomerically to MECOM.
  
Fusion Protein
Description The t(2;3) brings about the juxtaposition at 3q26 of the MECOM locus with regulatory elements normally located in proximity of the 2p breakpoints, with consequent EVI1 overexpression, without the formation of a fusion protein.
  

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

Decrease in thyroid adenoma associated (THADA) expression is a marker of dedifferentiation of thyroid tissue.
Kloth L, Belge G, Burchardt K, Loeschke S, Wosniok W, Fu X, Nimzyk R, Mohamed SA, Drieschner N, Rippe V, Bullerdiek J.
BMC Clin Pathol. 2011 Nov 4;11:13. doi: 10.1186/1472-6890-11-13.
PMID 22050638
 
Identification of a gene rearranged by 2p21 aberrations in thyroid adenomas.
Rippe V, Drieschner N, Meiboom M, Murua Escobar H, Bonk U, Belge G, Bullerdiek J.
Oncogene. 2003 Sep 4;22(38):6111-4.
PMID 12955091
 
Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia.
Trubia M, Albano F, Cavazzini F, Cambrin GR, Quarta G, Fabbiano F, Ciambelli F, Magro D, Hernandezo JM, Mancini M, Diverio D, Pelicci PG, Coco FL, Mecucci C, Specchia G, Rocchi M, Liso V, Castoldi G, Cuneo A.
Leukemia. 2006 Jan;20(1):48-54.
PMID 16619048
 
MECOM (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1)-EVI1).
Wieser R.
Atlas Genet Cytogenet Oncol Haematol. 2008;12(4):306-310. http://documents.irevues.inist.fr/bitstream/handle/2042/38551/12-2007-EVI103q26ID19.pdf?sequence=2
 

Citation

This paper should be referenced as such :
Huret, JL
t(2;3)(p21;q26) THADA/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2014;18(5):359-360.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0203p21q26ID1665.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes MECOM

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;3)(p21;q26) THADA/MECOM

External links

Mitelman databaset(2;3)(p21;q26) [Case List]    t(2;3)(p21;q26) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(2;3)(p21;q26) THADA/MECOM
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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