| Written | 2009-05 | 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 | 8002/3 Malignant tumor, small cell type |
| Atlas_Id | 6278 |
| Phylum | Soft Tissues::Small round cell tumor |
| Clinics and Pathology |
| Disease | A case of undifferentiated small round cell tumour of the frontal region, with multiple metastases at diagnosis (in long bones, lungs, kidney), was described in a 16-year-old male patient. The patient died 20 months after diagnosis (Wang et al., 2007). |
| Cytogenetics |
| Cytogenetics Morphological | The t(2;22)(q31;q12) was the sole anomaly. |
| Genes involved and Proteins |
| Gene Name | SP3 |
| Location | 2q31 |
| Protein | From N-term to C-term: a transactivation domain, a repressor domain, and 3 C2H2 zinc finger domains. 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' SP3. Fusion of EWSR1 exon 7 to exon 6 of SP3. |
| Fusion Protein | |
| Description | The N terminal transactivation domain of EWSR1 was fused to the zinc fingers (DNA binding domain) of SP3. |
| Bibliography |
| Undifferentiated small round cell sarcomas with rare EWS gene fusions: identification of a novel EWS-SP3 fusion and of additional cases with the EWS-ETV1 and EWS-FEV fusions. |
| Wang L, Bhargava R, Zheng T, Wexler L, Collins MH, Roulston D, Ladanyi M. |
| J Mol Diagn. 2007 Sep;9(4):498-509. |
| PMID 17690209 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(2;22)(q31;q12) in a small round cell tumour |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(4):434-434. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t0222q31q12SmallRoundID6278.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | EWSR1 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;22)(q31;q12) EWSR1/SP3 | |
| 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 11:25:14 CEST 2017 |
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