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    Genetic Defect at Work in Deadly Brain Tumors

    1 in 4 Glioblastomas May Have Newly Discovered Fault in Gene

    Gene Defects Tied to Worse Outcomes for Patients

    Researchers also found that having defects in one or both of the genes significantly decreased survival.

    In a group of 171 patients in the study diagnosed with glioblastoma, for example, those with the NFKBIA deletion had a median survival time of 46 weeks, and those with the EGFR amplification had a median survival of 53 weeks, compared to about 67 weeks for people without either abnormality.

    Hope for New Treatments

    The discovery of the NFKBIA gene and how it contributes to this kind of cancer may soon allow doctors to test patients for the gene and give them treatments that may correct for the genetic deficiency.

    “The home run will be if we can identify patients with this defect and find out if a neutralization of this pathway actually helps them,” Aldape says.

    There’s already some evidence that such a strategy could work.

    The new study also found that boosting the expression of I-kappa-B in cancer cells that carry the NFKBIA deletion makes them more vulnerable to a chemotherapy drug called Temodar.

    There’s a study already under way at Northwestern University that is testing a drug called Velcade, which helps to stabilize levels of the I-kappa-B protein in cancer cells.

    The hope is that Velcade, or another as-yet-undiscovered medication, could first be given to patients to help sensitize cancer cells to a next wave of chemotherapy or radiation treatments that could then finish them off.

    If that happens, experts say it could be the first real spark of hope in a cancer where diagnosis is nearly always a death sentence.

    “I’ve been focusing on brain tumors for one-quarter of a century,” says Harsh, “and it’s heart wrenching to lose patient after patient.”

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