Photomicrograph showing nodules of tumor cells separated by hyalinized fibrous septae.The diagnosis was postauricular congenital alveolar rhabdomyosarcoma. Credit: Mahesha Vankalakunti et al.
Key Points:
- The gene responsible for the deadliest type of brain tumor is also responsible for two forms of childhood cancer.
- The new discovery may open the door to the first targeted treatments of rhabdomyosarcoma.
- The gene may also play a role in other cancers of the soft tissue, known as sarcomas.
University of Virginia Health researchers have found a gene that is responsible for the deadliest type of brain tumor is also responsible for two forms of childhood cancer.
In 2020, researcher Hui Li and his team discovered that AVIL is the cancer-causing gene responsible for glioblastoma, the most lethal form of brain cancer. Less than 7% of patients with glioblastoma survive five years after diagnosis.
Now, in a new study published in PNAS, Li demonstrated AVIL is also responsible for two types of rhabdomyosarcoma, a cancer of the soft tissue that primarily strikes young children. The research team describes rhabdomyosarcoma as “addicted” to the AVIL’s excess activity, ultimately labeling the gene a “bona fide oncogene” for rhabdomyosarcoma.
Li and his colleagues say AVIL may be the convergence point for two different cellular processes that cause soft-tissue cells to become cancerous. In their study, they found that blocking the activity of AVIL prevented the formation of rhabdomyosarcoma in both cell samples in lab dishes and in mouse models.
That discovery could lead to a new, targeted treatment for rhabdomyosarcoma, a cancer that is relatively rare but deadly. Even with multi-modal therapeutic interventions, the survival rate for high-risk children is less than 20%.
The new research also reveals that AVIL is excessively active in other cancers that form in muscle, fat, nerves and other connective tissues in both children and adults.
“These findings plus our previous work in brain tumor suggest that AVIL is an oncogene that, when over-activated, may trigger the development of multiple cancer types,” said Li.
Information provided by University of Virginia.