Penn study finds mutation driving deadlier brain tumors and potential therapy to stop it
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PHILADELPHIA – A poorly understood mutation in the brain cancer glioblastoma (GBM) is now being implicated for the first time as the driver of rare but deadlier cases of the disease, a team of researchers from the Perelman School of Medicine at the University of Pennsylvania and the Ludwig Institute for Cancer Research reported this week in Cancer Cell. While the study links the mutation to worse survival rates than what’s typically seen in GBM, it offers fresh hope for the small group of patients who harbor it: complementary preclinical work performed at Ludwig suggests targeting the mutation with an investigational drug or other targeted therapies may reduce the tumor’s size and extend lives.

Analyzing the genetic, clinical and imaging data from 260 GBM cases housed at Penn Medicine, the researchers discovered that patients with an epidermal growth factor receptor (EGFR) mutation, known as A289D/T/V, had increased tumor invasion compared to the rest of the cohort and an overall survival rate of six months. The median overall survival for GBM patients is 15 months.

EGFR is amplified in nearly 60 percent of cases, and EGFR mutations occur frequently in the disease. The most common, EGFRvIII, is found in 30 percent of patients.

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