Gene deletion believed to be factor in brain cancer

BIRMINGHAM, AL (WBRC) – A study done by the University of Alabama at Birmingham shows that a gene deletion may be responsible for poor patient outcomes for those with glioblastoma, a type of brain tumor.

The gene, called NFKBIA, was noticed to be a contributing cause of glioblastoma when it had an abnormality. Earlier studies had found that one-third of glioblastomas were caused by an abnormality in a different gene, EGFR.

"It's been known for 25 years that EGFR plays a role in glioblastoma as well as many other cancers, and that this gene is aberrantly activated in glioblastoma," said Dr. Marcus Bredel, a scientist with the UAB Comprehensive Cancer Center. "We asked ourselves, what causes the majority of glioblastomas that don't have this defect?"

The study shows that NFKBIA deletions in one out of four of 790 glioblastomas. Bredel adds that there were only a handful of examples where both NFKBIA and EFGR abnormalities were found in the same patient, but the two defects were found to be the major causes of most of the tumors.

Patients with either defects were found to have a less likely chance of survival than those with neither.

"The discovery of the NFKBIA deletion's role in glioblastoma, and its dismal effect on survival, has important implications," Bredel said. "Our laboratory is currently trying to develop a robust method to screen patient samples for the gene defect."
Bredel says the discovery may lead to alternate methods of treating glioblastomas.

"If we can determine that a patient's glioblastoma harbors the NFKBIA deletion, we can potentially target that tumor for treatment with drugs capable of stabilizing levels of I-kappa-B, NFKBIA's protein product," he said.  "There are drugs approved for treatments of other cancers or currently under clinical investigation that may have that capacity."

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