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Rare Mutation Shows That Genetic Testing Should Be Bigger Part of Cancer Treatments

Penn State flickr.com/photos/pennstatelive/9661553955
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An image showing brain cancer cells.

Cancer that spreads to the brain often results in a terminal diagnosis, but new research out of Yale University School of Medicine says that's not always the case and is pointing toward an even more promising future for genetic testing and personalized medicine.

The research, which was published in the Journal of Clinical Oncology, looked at non-small cell lung cancer. It's a common type of lung cancer that in about 30 percent of cases, spreads to a patient's brain.

"Most patients who have non-small cell lung cancer and brain metastases, their prognosis is measured in months," said Kimberly Johung, an assistant professor of therapeutic radiology at Yale, and co-author of the study. "Median survival for those patients can be predicted to be about six to seven months."

Speaking on WNPR'sWhere We Live, Johung said that timeline includes surgeries, chemotherapy, or other drugs. What it doesn't include, however, are patients with a rare genetic mutation called an ALK mutation.

That mutation helps drive the spread of this cancer in about 5 percent of cases. But, "in the ALK-mutated patients who have spread of cancer to the brain, we found that they're living four years, on average, which is really a considerable difference compared to majority of this population, that has a very bleak prognosis," Johung said.

That's because there are drugs that specifically target the ALK mutation, Johung said, hindering its ability to fuel the cancer's spread.

"Now, not only can we use genetic or molecular information about cancers to guide chemotherapy and drugs that are given in the bloodstream or by mouth," said Johung, "but we can use this molecular information to guide treatment decisions for spread of cancer to the brain and how we should direct their radiation."

Further evidence, Johung said, that genetic testing should provide a framework for more targeted drug therapies and radiation treatments.

Patrick Skahill is a reporter and digital editor at Connecticut Public. Prior to becoming a reporter, he was the founding producer of Connecticut Public Radio's The Colin McEnroe Show, which began in 2009. Patrick's reporting has appeared on NPR's Morning Edition, Here & Now, and All Things Considered. He has also reported for the Marketplace Morning Report. He can be reached at pskahill@ctpublic.org.

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