Ewings sarcoma - Ewing's sarcoma is a rare type of cancer that primarily affects the bones or soft tissue. It usually develops in children and young adults, typically between the ages of 10 and 20. Ewing's sarcoma commonly arises in the long bones of the legs or arms, but it can also occur in other bones or 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 translocation fuses the EWSR1 gene on chromosome 22 with the FLI1 gene on chromosome 11, resulting in a fusion gene called EWSR1-FLI1. This fusion gene produces an abnormal protein that drives the development of Ewing's sarcoma. 

 

Other less common genetic mutations that have been identified in Ewing's sarcoma include: 

 

- EWSR1-ERG fusion: This fusion gene is similar to EWSR1-FLI1 but involves the ERG gene instead of the FLI1 gene. 

 

- EWSR1-ETV1 fusion: This fusion gene involves the ETV1 gene and is found in a small subset of Ewing's sarcoma cases. 

 

- Other EWSR1 fusions: In addition to FLI1 and ETV1, the EWSR1 gene can fuse with other genes, such as ETV4, E1AF, and FEV, in rare cases of Ewing's sarcoma. 

 

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