Ewing sarcoma breakpoint region 1

Ewing sarcoma breakpoint region 1 (EWSR1), also known as EWS, is a gene that is associated with Ewing sarcoma, a rare type of cancer that occurs in bones or in the soft tissue around the bones. This gene is located on the long (q) arm of chromosome 22 at position 12.2.

Function[edit | edit source]

The EWSR1 gene provides instructions for making a protein called EWS protein. This protein is found in the nucleus of cells, where it is involved in several important cellular activities. The EWS protein plays a role in RNA splicing, a process that modifies RNA molecules to produce different proteins. It also participates in DNA repair and apoptosis, or programmed cell death.

Role in disease[edit | edit source]

Mutations in the EWSR1 gene are associated with Ewing sarcoma. These mutations are not inherited but occur in body cells during a person's lifetime. The most common mutation in Ewing sarcoma involves a rearrangement (translocation) of genetic material between chromosomes. This translocation, written as t(11;22)(q24;q12), fuses part of the EWSR1 gene on chromosome 22 with part of the FLI1 gene on chromosome 11. The resulting EWS-FLI1 fusion gene produces a protein that promotes cell growth and division, leading to the development of Ewing sarcoma.

Clinical significance[edit | edit source]

The detection of the EWS-FLI1 fusion gene is a key diagnostic tool for Ewing sarcoma. It can be identified through various laboratory tests, including fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). The presence of the EWS-FLI1 fusion gene is a strong indicator of Ewing sarcoma, although it can also be found in other types of cancer.