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Download Solid Tumour Section t(1;22)(q23;q12) in myoepithelioma Atlas of Genetics and Cytogenetics
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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Solid Tumour Section Short Communication t(1;22)(q23;q12) in myoepithelioma Jean-Loup Huret Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France (JLH) Published in Atlas Database: July 2009 Online updated version : http://AtlasGeneticsOncology.org/Tumors/t0122q23q12MyoID6277.html DOI: 10.4267/2042/44787 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2010 Atlas of Genetics and Cytogenetics in Oncology and Haematology (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. 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). Result of the chromosomal anomaly Epidemiology Hybrid Gene 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). Description 5' EWSR1 - 3' FLI1. EWSR1 exon 7 is fused in frame to PBX1 exon 5. Fusion Protein Cytogenetics Description Fusion of the N terminal transactivation domain of EWSR1 to the homeobox (DNA binding domain) of PBX1. Cytogenetics Morphological The t(1;22)(q23;q12) was the sole anomaly. Genes involved and proteins References PBX1 Location: 1q23 Protein Homeobox protein (homeodomain in amino acids 233295). Binds the sequence 5'-ATCAATCAA-3'. Transcription factor. Brandal P, Panagopoulos I, Bjerkehagen B, Gorunova L, Skjeldal S, Micci F, Heim S. Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. Genes Chromosomes Cancer. 2008 Jul;47(7):558-64 EWSR1 Huret JL. t(1;22)(q23;q12) in myoepithelioma. Atlas Genet Cytogenet Oncol Haematol. 2010; 14(6):596. This article should be referenced as such: Location: 22q12 Protein From N-term to C-term: a transactivation domain Atlas Genet Cytogenet Oncol Haematol. 2010; 14(6) 596