What genetic abnormality is associated with Ewing Sarcoma?

Ewing Sarcoma is primarily associated with a specific chromosomal translocation involving chromosome 11 and chromosome 22. This translocation results in the fusion of the EWSR1 gene on chromosome 22 to the FLI1 gene on chromosome 11, forming the EWS-FLI1 fusion protein. This protein plays a crucial role in the pathogenesis of Ewing Sarcoma by acting as a transcription factor that promotes tumor growth and proliferation.

Understanding the genetic basis of Ewing Sarcoma is important for diagnosis and developing targeted therapies. The identification of the 11;22 translocation can help differentiate Ewing Sarcoma from other tumors and can also provide insights into potential therapeutic approaches that could inhibit the activity of the EWS-FLI1 fusion protein. Therefore, the translocation between chromosomes 11 and 22 is a hallmark of Ewing Sarcoma, solidifying the connection between this genetic abnormality and the development of the disease.