Home Career Gene that causes deadliest brain tumor also causes childhood cancer – ScienceDaily

Gene that causes deadliest brain tumor also causes childhood cancer – ScienceDaily


Scientists have discovered that the gene that UVA Health researchers discovered is responsible for the deadliest type of brain tumor is also responsible for two forms of childhood cancer.

The new discovery could open the door to the first targeted treatments for two types of rhabdomyosarcoma, a soft tissue cancer that mostly affects young children.

Research shows that the gene may also play an important role in other types of cancer that form in muscle, fat, nerves and other connective tissues in both children and adults.

“We have gathered a lot of evidence to support this [the gene] AVIL is a powerful driver for both major types of rhabdomyosarcoma,” said researcher Hui Li, Ph.D., of the Department of Pathology at the University of Virginia School of Medicine and UVA Cancer Center. “The tumors depend on oncogenes AVILwhich supports the rationale for the development of targeted therapeutic interventions AVIL in this childhood cancer.”

Rhabdomyosarcoma oncogene

Lee and his team discovered in 2020 that the gene AVIL is the oncogene (gene that causes cancer) responsible for glioblastoma, the deadliest form of brain cancer. Fewer than 7% of glioblastoma patients survive five years after diagnosis.

Lee’s discovery of 2020 was named one of the biggest biomedical discoveries of the year by the editors of the health news site STAT. Lee’s latest work builds on this research and suggests that AVIL even more important than previously thought.

Malfunctions in AVILLi and his team discovered that they play an important role in the development of two major subtypes of rhabdomyosarcoma. In a paper describing the findings, he and his colleagues describe rhabdomyosarcoma as “dependent” on overactive genes. They ultimately mark AVIL a “bona fide oncogene” for rhabdomyosarcoma.

AVIL may be a point of convergence for two different cellular processes that cause soft tissue cells to become cancerous, the researchers note. Blocking activities c AVILThey found that it prevented the formation of rhabdomyosarcoma both in cell samples in laboratory dishes and in mouse models of the disease.

It’s a promising sign that the discovery could lead to new targeted treatments for rhabdomyosarcoma, a relatively rare but potentially deadly cancer. Even with multimodal therapeutic interventions, the survival rate of high-risk children is less than 20%.

A new study also shows this AVIL overactive in other soft tissue cancers known as sarcomas. Researchers have found that the degree of overactivity correlates with patient outcomes, suggesting that AVIL may be a vulnerability for these cancers as well.

“These results, plus our previous work with brain tumors, suggest that AVIL is an oncogene that, when overactivated, can trigger the development of several types of cancer,” Lee said.

Finding better ways to prevent and treat childhood cancer is an urgent mission of the UVA Cancer Center, which this year was designated a Comprehensive Cancer Center by the National Cancer Institute. The designation recognizes elite cancer centers with the nation’s most outstanding oncology programs. UVA is one of 52 comprehensive cancer centers in the nation and the only one in Virginia.

Childhood cancer results published

Li and his team published their findings in the scientific journal PNAS. The team consisted of Zhongqiu Xie, Paul L. Yanczyk, Xinrui Shi, Tiong Wan, Sandeep Singh, Robert Cornelison, Jingjing Xu, James W. Mandel, Frederick G. Barr, and Li.

The work was supported by the National Cancer Institute of the National Institutes of Health, grant R01CA240601, and the NCI Intramural Research Program. Patient cell samples were provided by St. Jude Children’s Research Hospital, and high-performance computing systems and services were provided by the UVA School of Data Science and other UVA partners.

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