Ewsr1 gene

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Ewing sarcoma breakpoint region 1 gene

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DefinitionThis section has been translated automatically.

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.

General informationThis section has been translated automatically.

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.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer