EWSR1FLI1treansktio

EWSR1FLI1transkito refers to a specific chromosomal translocation involving the EWSR1 and FLI1 genes. This genetic alteration is most commonly found in Ewing sarcoma, a rare and aggressive type of bone and soft tissue cancer. The translocation typically results in the fusion of the EWSR1 gene located on chromosome 22 with the FLI1 gene on chromosome 11. This creates a novel fusion gene, EWSR1-FLI1, which produces an abnormal fusion protein.

The EWSR1-FLI1 fusion protein acts as an aberrant transcription factor. It disrupts normal gene regulation by binding to DNA sequences that are not normally targeted by the individual EWSR1 or FLI1 proteins. This dysregulation leads to the overexpression of genes involved in cell growth, proliferation, and survival, contributing to the uncontrolled tumor development characteristic of Ewing sarcoma. While EWSR1-FLI1 is the most prevalent fusion in Ewing sarcoma, other less common translocations involving EWSR1 and different ETS-family transcription factors can also occur in this cancer. Identifying this specific translocation is crucial for diagnosis and can inform treatment strategies for patients with Ewing sarcoma. Research into the precise mechanisms by which the EWSR1-FLI1 fusion protein drives tumorigenesis continues to be an active area of investigation.