| Written | 2010-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C400-C403,C408-C414,C418-C419 BONES & JOINTS |
| ICD-Morpho | 8805/3 Undifferentiated sarcoma |
| Atlas_Id | 5411 |
| Phylum | Soft Tissues:x::Undifferentiated sarcoma |
| Clinics and Pathology |
| Disease | A case of undifferentiated sarcoma of the pubic bone, with multiple pulmonary metastases at diagnosis, was described in a 39-year-old female patient. The patient died 6 months after diagnosis (Yamaguchi et al., 2005). |
| Cytogenetics |
| Cytogenetics Morphological | The t(6;22)(p21;q12) was accompanied with a marker chromosome. |
| Genes involved and Proteins |
| Gene Name | POU5F1 |
| Location | 6p21 |
| Protein | 360 amino acids in the longest isoform; contains a bipartte DNA-binding domain, composed of a POU- specific domain (amino acids 138-212), and a homeobox (aa 230-289). Transcription factor with a major role during embryogenesis. Binds specifically ATTTGCAT. |
| 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' POU5F1. Fusion of exons 1-6 of EWSR1 to part of exon 1, and exons 2-5 of POU5F1. |
| Fusion Protein | |
| Description | The N terminal transactivation domain of EWSR1 was fused to the DNA binding domains of POU5F1. |
| Bibliography |
| EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12). |
| Yamaguchi S, Yamazaki Y, Ishikawa Y, Kawaguchi N, Mukai H, Nakamura T. |
| Genes Chromosomes Cancer. 2005 Jun;43(2):217-22. Erratum in: Genes Chromosomes Cancer. 2008 Mar;47(3):266. |
| PMID 15729702 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(6;22)(p21;q12) in undifferentiated sarcoma |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1087-1087. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t0622p21q12UndifID5411.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(6;22)(p21;q12) EWSR1/POU5F1 | |
| 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 11:25:16 CEST 2017 |
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