SHINING A LIGHT ON SARCOMA

Ewing Sarcoma

Ewing’s sarcoma is a rare type of cancer that primarily affects the bones or soft tissue.

About Ewing Sarcoma

It usually develops in children and young adults, typically between the ages of 10 and 20. It commonly arises in the long bones of the legs or arms, but can also occur in other bones or in the soft tissues of the body.

The most common genetic mutation associated with Ewing’s sarcoma is a chromosomal translocation between chromosomes 11 and 22. This fuses the EWSR1 gene on chromosome 22 with the FLI1 gene on chromosome 11, resulting in a fusion gene called EWSR1-FLI1. This produces an abnormal protein that drives the development of the disease. Other, less common genetic mutations have also been identified:

  • EWSR1-ERG fusion: similar to EWSR1-FLI1 but involving the ERG gene instead of FLI1.
  • EWSR1-ETV1 fusion: involves the ETV1 gene and is found in a small subset of cases.
  • Other EWSR1 fusions: in rare cases the EWSR1 gene can fuse with other genes, such as ETV4, E1AF and FEV.

These genetic mutations disrupt normal cellular processes, leading to uncontrolled cell growth and the formation of tumours characteristic of Ewing’s sarcoma. However, they are not present in all cases, and the exact genetic profile can vary between individuals.