Ewsr1 gene

EWSR1 is an acronym for the "Ewing sarcoma breakpoint region 1 gene". It is located on the long arm of chromosome 22 at position 12.2. Mutations of the gene can induce the Ewing sarcoma. The detection of this translocation is used diagnostically together with conventional histology and immunohistochemistry for the diagnosis of Ewing sarcoma.

Other tumors in which EWSR1 translocations have been detected:

• Desmoplastic round cell tumor (DSRCT): - t(11;22)(p13;q12) with WT1

• Clear cell sarcoma (malignant melanoma of soft parts (MMSP): - t(12;22)(q13;q12) with ATF-1.

• small cell round cell sarcoma: t(11;22)(p36.1;q12) - PATZ1

• angiomatous fibrous histiocytoma : t(12;22)(q13;q12) - ATF1 or t(2;22)(q33;q12) - CREB1

The tumour cells have certain chromosomal changes involving the EWS gene (Ewing sarcoma gene) on chromosome 22. In the case of the fusion genes, best. properties of both genes can be retained. The resulting fusion gene codes for a fusion protein, an oncoprotein.