| Written | 2009-07 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 | Soft Tissues::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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:25:13 CEST 2017 |
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