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The Making of Medicine

Discovery Reveals Gene That Causes Childhood Cancers

Our Hui Li, PhD, has identified an oncogene (cancer-causing gene) responsible for two forms of rhabdomyosarcoma, a cancer of the soft tissue that primarily strikes children. And it turns out it's the same gene that causes the deadliest brain tumor, glioblastoma.

Professor Li discovered in 2020 that the gene, AVIL, causes glioblastoma, and his finding was soon recognized as one of the year's biggest biomedical advances by the editors of health news site STAT. His new research builds on that work and reveals that AVIL is even more important than previously realized.

Malfunctions in AVIL, Li and his team found, are critical in the development of the two main subtypes of rhabdomyosarcoma. The cancer, he found, is “addicted” to the gene’s excess activity. Blocking the activity of AVIL prevented the formation of rhabdomyosarcoma in both cell samples and mouse models.

That could bode well for the potential of the discovery to lead to a new, targeted treatment for rhabdomyosarcoma. Such targeted treatments are desperately needed -- the survival rate for high-risk children is less than 20%.

“We accumulated multiple lines of evidence supporting [the gene] AVIL is powerful driver for both major types of rhabdomyosarcoma,” said Li, of the School of Medicine’s Department of Pathology and UVA Cancer Center. “The tumors are oncogene addicted to AVIL, which supports the rationale to design therapeutic interventions to target AVIL in this childhood cancer.”

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