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

s fellowship training at Stanford University, and through his work there developed a relationship with researchers at the University of Oregon, which had an ongoing project in blood cancers that defied common classifications. Pollyea and his team took a sample from his patient and sent it to Oregon for testing, with the hopes that if they could identify a gene mutation causing this cancer, there might be a chance they could target the mutation with an existing drug.

Sure enough, sequencing showed a mutation in a gene that makes a protein called colony-stimulating factor 3 (CSF3R). Cells with this mutation have uncontrolled growth in the bone marrow, resulting in a leukemia.

Further studies revealed a drug, ruxolitinib, could effectively target cells with this mutation. Approved to treat another condition, myelofibrosis, just months before, the drug hadn't previously been considered as a treatment for this type of leukemia. But with dwindling options, Pollyea and colleagues decided ruxolitinib was worth a try.

"There were no good alternatives other than to use the ruxolitinib," Pollyea says. "Our patient became the first person with this condition who received this treatment. His white blood count came down, his other blood counts normalized, and his symptoms virtually disappeared."

"I had my best snowboarding season ever," says the patient. "Good, late season snow here in Colorado. Actually, I'd lived elsewhere and when I first got the disease I wondered if maybe something about moving to Colorado made it happen you know, the altitude, the lack of oxygen. But now after working with Dr. Pollyea, I realize that I didn't get sick because I live here, I got cured because I live here. Would I have had this kind of treatment anywhere else? I'm not so sure."

Both patient and doctor are clear that "cure" is an imprecise word to use in this case, but so far improvement seems durable. This experience will now serve as the basis of a plann
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Contact: Garth Sundem
garth.sundem@ucdenver.edu
University of Colorado Denver
Source:Eurekalert

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