PAX3 is frequently associated with the development and progression of certain cancers. It is particularly known for its role in Alveolar Rhabdomyosarcoma (ARMS), a type of soft tissue sarcoma that predominantly affects children and adolescents. In ARMS, a chromosomal translocation t(2;13)(q35;q14) leads to the formation of the PAX3-FOXO1 fusion gene, which acts as an oncogene, promoting cancer cell growth and survival.
