Di Carlo D, Chisholm J, Kelsey A, Alaggio R, Bisogno G, Minard-Colin V, Jenney M, Dávila Fajardo R, Merks JHM, Shipley JM, Selfe JL
Recent advances have greatly improved our understanding of rhabdomyosarcoma (RMS), a type of cancer, helping us tailor treatments based on risk factors. In earlier studies, risk was determined solely by clinical factors. The latest European Pediatric Soft Tissue Sarcoma Study Group (EpSSG) protocol, known as FaR-RMS, now includes genetic factors like the FOXO1 fusion gene status in assessing risk, instead of just relying on histology.
New research has identified additional important genetic features, such as the MYOD1L122R gene mutation. This mutation blocks cell differentiation and behaves similarly to the MYC gene, which is linked to more aggressive cancer behavior. MYOD1L122R often occurs alongside other mutations, like PIK3CA, suggesting these mutations might work together to drive the disease.
A review of ten studies involving 72 cases found that the MYOD1L122R mutation is present in both adults and children with RMS. It is commonly seen in specific tumor types, especially in the head, neck, and limbs, and is associated with poorer outcomes. This raises important questions about how to incorporate MYOD1L122R into risk assessments and the most effective ways to treat patients with this mutation.
New research has identified additional important genetic features, such as the MYOD1L122R gene mutation. This mutation blocks cell differentiation and behaves similarly to the MYC gene, which is linked to more aggressive cancer behavior. MYOD1L122R often occurs alongside other mutations, like PIK3CA, suggesting these mutations might work together to drive the disease.
A review of ten studies involving 72 cases found that the MYOD1L122R mutation is present in both adults and children with RMS. It is commonly seen in specific tumor types, especially in the head, neck, and limbs, and is associated with poorer outcomes. This raises important questions about how to incorporate MYOD1L122R into risk assessments and the most effective ways to treat patients with this mutation.
