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Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1

Written2009-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Identity

ICD-Topo C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE
ICD-Morpho 9373/1 8940/1 8982/1 Parachordoma Mixed tumour Myoepithelioma
Atlas_Id 6277
Phylum t(1;22)(q23;q12) in myoepithelioma

Clinics and Pathology

Disease Myoepitheliomas are tumours which can occur in the salivary glands, in soft tissues and other organs, with a variable but generally low to intermediate aggressiveness (myoepithelial carcinoma for the most adverse histology).
Epidemiology One case to date, a 59-year-old female patient with a 10 years long history. The patient was well 7 months after treatment of a myoepithelioma with an uncertain degree of malignancy (Brandal et al., 2008).

Cytogenetics

Cytogenetics
Morphological
The t(1;22)(q23;q12) was the sole anomaly.

Genes involved and Proteins

Gene Name PBX1
Location 1q23
Protein Homeobox protein (homeodomain in amino acids 233-295). Binds the sequence 5'-ATCAATCAA-3'. Transcription factor.

Gene Name EWSR1
Location 22q12
Protein From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing.

Result of the chromosomal anomaly

Hybrid Gene
Description 5' EWSR1 - 3' PBX1. EWSR1 exon 7 is fused in frame to PBX1 exon 5.
Fusion Protein
Description Fusion of the N terminal transactivation domain of EWSR1 to the homeobox (DNA binding domain) of PBX1.
  

Bibliography

Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma.
Brandal P, Panagopoulos I, Bjerkehagen B, Gorunova L, Skjeldal S, Micci F, Heim S.
Genes Chromosomes Cancer. 2008 Jul;47(7):558-64.
PMID 18383210
 

Citation

This paper should be referenced as such :
Huret, JL
t(1;22)(q23;q12) in myoepithelioma
Atlas Genet Cytogenet Oncol Haematol. 2010;14(6):596-596.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0122q23q12MyoID6277.html


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

Genes EWSR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;22)(q23;q12) EWSR1/PBX1

External links

Mitelman database t(1;22)(q23;q12) EWSR1/PBX1 [Case List]    t(1;22)(q23;q12) EWSR1/PBX1 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C47,C49) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databaseEWSR1/PBX1[MCList]    EWSR1 (22q12.2) PBX1 (1q23.3)   t(1;22)(q23;q12)
TICdbEWSR1/PBX1    EWSR1 (22q12.2) PBX1 (1q23.3)
 
Disease databaseSoft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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