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

2013-11-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


One case to date, a 59-year old male patient with a M4-AML (Trubia et al., 2006).


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).


MECOM was overexpressed.

Genes Involved and Proteins

Gene name
THADA (THADA, armadillo repeat containing)
Protein description
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 (Ecotropic Viral Integration Site 1 (EVI1) and Myelodysplastic Syndrome 1 (MDS1-EVI1)
MECOM is also known as EVI1 or PRDM3; MECOM symbol means: "MDS1 and EVI1 complex locus".
Protein description
"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


Regulatory sequences were transferred telomerically to MECOM.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.


Pubmed IDLast YearTitleAuthors
220506382011Decrease in thyroid adenoma associated (THADA) expression is a marker of dedifferentiation of thyroid tissue.Kloth L et al
129550912003Identification of a gene rearranged by 2p21 aberrations in thyroid adenomas.Rippe V et al
166190482006Characterization of a recurrent translocation t(2;3)(p15-22;q26) occurring in acute myeloid leukaemia.Trubia M et al



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.


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2013-11-01

Online version: http://atlasgeneticsoncology.org/haematological/1665/t(2;3)(p21;q26)