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New disease-to-drug genetic matching puts snowboarder back on slopes
Date:6/5/2013

A recent article in the New England Journal of Medicine describes genetic testing of a rare blood cancer called atypical chronic neutrophilic leukemia (CNL) that revealed a new mutation present in most patients with the disease. The mutation also serves as an Achilles heel, allowing doctors at the University of Colorado Cancer Center to prescribe a never-before-used, targeted treatment. The first patient treated describes his best snowboarding season ever.

"I'm a crazy sports fan," says the patient. "I go 30 days a season. I may be the oldest guy snowboarding on the mountain, but I'm not the slowest!"

When he lost a few pounds from what eventually proved to be undiagnosed cancer, the patient was initially pleased. "I was lighter and could snowboard better ride better, jump better," he says. Then he took a blood test and his white blood cell count was far in excess of the normal range. His doctor couldn't find a cause and so they watched and waited. A couple months later, another blood test showed his white count was even higher.

"That's when I decided to go to the University of Colorado Hospital," he says. There he met Daniel A. Pollyea, MD, MS, CU Cancer Center investigator, assistant professor and clinical director of Leukemia Services at the University of Colorado School of Medicine, and co-author of what would become the recent study in NEJM.

"Pollyea said my illness didn't fit into any major categories," the patient says. "I could see in his face that he'd run into something abnormal, something new. He was aggressive but didn't force his own opinion. I saw him reach out to every source he could find every other specialist he could get in contact with."

"He'd been sent from doctor to doctor being told incorrect information," Pollyea says. "By the time we saw him, his blood counts were going in a bad direction due to the progression of his leukemia."

Pollyea had worked on blood cancers since hi
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Contact: Garth Sundem
garth.sundem@ucdenver.edu
University of Colorado Denver
Source:Eurekalert

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