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| GENATLAS PHENOTYPE |
| last update : 03-11-2009 |
| Symbol | EWS | |||||
| Location | 22q12.2 and 11q24 | |||||
| Name | Ewing sarcoma | |||||
| Corresponding gene | EWSR1 , FLI1 | |||||
| Other symbol(s) | BES, BES22 | |||||
| Main clinical features | Ewing sarcoma | |||||
Genetic determination
| Function/system disorder
| osteo-articular |
| neoplasia | Type
| malignancy
| |
| Gene product |
| Name | protein EWS, fused with FLI1 5' - EWS - FLI1 - 3' or with ETV1 5'EWS - ETV1 -3' or with ETV4 5' - EWS - ETV4 - 3' or with ERG 5' - EWS - ERG - 3' or with ATF1 5' - EWS - ATF1 - 3' or with WT1 5' - EWS - WT1 - 3' or with TEC 5' -EWS - TEC - 3'or 5' - EWS - E1AF - 3' with replacement of the RNA binding domain of EWS by the DNA-binding domain of the corresponding transcription factor |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
| translocation
|
| tumoral, acquired t(11;22)(q24;q12)
|
| translocation
|
| variant translocations between EWSR1 and other gene partners
| |
| Remark(s) | over 90 percent of EWS cases have the t(11;22)(q24;q12) |
| Genotype/Phenotype correlations | acquired t(11;22)(q24;q12) is also found in other small round cell tumours, including peripheral neuroepithelioma (PNE) , Askan tumor (thoracopulmonary tumor), and esthesioneuroblastoma |