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Childhood cancers are also caused by the same gene that causes the deadliest brain tumour

The discovery might pave the way for the first specifically targeted therapies for two kinds of rhabdomyosarcoma, a soft tissue cancer that mostly affects youngsters. 

Researchers at UVA Health have identified a gene that is responsible for two types of childhood cancer as well as the most lethal form of brain tumour.

According to the findings, the gene may also be crucial in other malignancies that develop in muscle, fat, nerves, and other connective tissues in both children and adults.

“We accumulated multiple lines of evidence supporting [the gene] AVIL is a powerful driver for both major types of rhabdomyosarcoma,” said researcher Hui Li, Ph.D., of the University of Virginia 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.”

2020 saw the discovery by Li and his team that the gene AVIL is the oncogene in charge of glioblastoma, the most deadly type of brain cancer. Glioblastoma patients have a five-year survival rate of less than 7%. The editors of the health news website STAT picked Li’s 2020 finding as one of the year’s top biomedical findings.

Li and his team discovered that AVIL dysfunctions are crucial for the emergence of the two primary subtypes of rhabdomyosarcoma. He and his coworkers characterise rhabdomyosarcoma as “addicted” to the gene’s excessive activity in a scholarly publication explaining the findings. They declare AVIL to be a “bona fide oncogene” for rhabdomyosarcoma at the end.

Two distinct biological mechanisms that result in malignant soft-tissue cells may come together at AVIL. Both in lab-grown cell samples and in mice models of the disease, the development of rhabdomyosarcoma was stopped by inhibiting the activity of AVIL.

That’s encouraging news for the development of a novel, focused therapy for the devastating but relatively uncommon cancer known as rhabdomyosarcoma.

For high-risk youngsters, the survival rate is less than 20% even with multimodal therapy measures. The most recent studies also show that AVIL is overactive in other soft tissue tumours such as sarcomas.

The researchers discovered a correlation between the level of excessive activity and patient outcomes, indicating that AVIL may be a vulnerability for certain cancers as well.

“These findings plus our previous work in brain tumors suggest that AVIL is an oncogene that, when over-activated, may trigger the development of multiple cancer types,” Li said.

Childhood cancers are also caused by the same gene that causes the deadliest brain tumour

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