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Discovery pinpoints cause of 2 types of leukemia
Date:5/10/2013

sed a combination of tests not yet commonly deployed together for research on primary specimens collected from cancer patients. They performed gene sequencing on specimens from 27 patients, creating a profile of the possible genetic causes of these diseases. This enabled them to highlight the important mutations that were common among CNL and aCML patients. As they gathered information on potentially relevant mutations, they simultaneously tested how fresh samples of patients' cancer cells responded to different drugs. This enabled the scientists to link drug efficacy to CSF3R gene mutations.

The two-pronged study approach provided researchers with the ability to quickly home in on and verify a root cause of these rare forms of leukemia. Of the 27 patients in the study, 16, or about 59 percent, had the CSF3R mutation.

"This approach allows us to rapidly discover mutations that are fundamental to cancer growth and identify drugs that might be used to combat them," said Julia Maxson, Ph.D., of the OHSU Knight Cancer Institute, who was first author on the study. "Our findings are not only promising for the treatment of patients with CNL and aCML but also validate our approach to identify new drug targets in cancer."

In fact, during the study period, a CNL patient was treated with the FDA-approved drug ruxolitinib, which inhibits the cancer cell growth initiated by the CSF3R mutation. This treatment resulted in a dramatic improvement in the patient's condition.

CNL and aCML impact several hundred patients in the United States each year. Patients afflicted with these conditions typically live only two to three years. These forms of cancer have also been difficult to diagnose because there wasn't enough known about their genetic drivers. Knowing that they are defined by mutations in CSF3R provides physicians with a means to confirm a diagnosis. Tests for this mutation are already available; the OHSU Knight Diagnostic Laboratories' Ge
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Contact: Elisa Williams
willieli@ohsu.edu
503-494-8231
Oregon Health & Science University
Source:Eurekalert

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