Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(2;3)(p16;q26) BCL11A/MECOM

Written2013-09Jean-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 1664
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 THADA in the t(2;3)(p21;q26) THADA/MECOM.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Phenotype / cell stem origin There were one M1-AML, two M2-AMLs, and one M5-AML; patients presented with dysplasia of at least two myeloid cell lineages.
Epidemiology Four cases to date; there were three male and one female patients; patients were aged 36, 36, 36, and 55 (in years) (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)(p16;q26) was the sole anomaly in two of four cases (at least in a subclone), accompanied with -7 in one case, and +14 in another case.

Genes involved and Proteins

Gene Name BCL11A
Location 2p16
Protein BCL11A is a Krüppel zinc-finger transcription factor, which has been shown to be essential for pre-B-cell development, thymocyte maturation, and globin switching, expressed in haematopoietic and neural tissues. BCL11A controls FLT3 and IL7R expression in early hematopoietic progenitors (Wu et al., 2013).
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 elements were transferred at the 5' of 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

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
 
Bcl11a controls Flt3 expression in early hematopoietic progenitors and is required for pDC development in vivo.
Wu X, Satpathy AT, Kc W, Liu P, Murphy TL, Murphy KM.
PLoS One. 2013 May 31;8(5):e64800. doi: 10.1371/journal.pone.0064800. Print 2013.
PMID 23741395
 

Citation

This paper should be referenced as such :
Huret, JL
t(2;3)(p16;q26) BCL11A/MECOM
Atlas Genet Cytogenet Oncol Haematol. 2014;18(4):276-277.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0203p16q26ID1664.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)(p16;q26) BCL11A/MECOM

External links

Mitelman databaset(2;3)(p16;q26) [Case List]    t(2;3)(p16;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)(p16;q26) BCL11A/MECOM
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jan 18 15:21:13 CET 2017


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.