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IU researchers report first effective treatment of tumors arising from common genetic disease NF1
Date:11/1/2012

Physician-researchers at Indiana University School of Medicine have reported the first effective therapy for a class of previously untreatable and potentially life-threatening tumors often found in children.

Announcing their findings in the online first edition of Lancet Oncology, the researchers said the drug imatinib mesylate, marketed as Gleevec as a treatment for chronic myeloid leukemia, provided relief to a significant number of patients with plexiform neurofibromas, tumors caused by neurofibromatosis type 1, or NF1.

"Although this was a small study, the results were significant, particularly given that such patients have had few treatment options for what can be a very debilitating disease," said first author Kent Robertson, M.D., Ph.D., associate professor of pediatrics. "We believe these findings warrant larger trials of both imatinib mesylate as well as other similar compounds that would appear promising in laboratory tests."

Affecting about 1 in every 3,000 children born, NF1 is the most common neurological disorder caused by mutations in a single gene. Including a much rarer related type, NF2, neurofibromatosis is a genetic disorder that is more prevalent than cystic fibrosis, Duchenne muscular dystrophy and Huntington's disease combined, according to the Children's Tumor Foundation.

The mutation produces a variety of symptoms, from mild to severe. Patients can develop caf au lait spots and disfiguring tumors on or just under the skin. Internally, tumors can develop along nerve tissue and cause problems if they begin to press against vital organs or the windpipe. Some patients suffer from chronic pain.

The tumors have been nearly impossible to treat effectively. Because they are relatively slow growing, they are not affected by radiation treatments or cancer chemotherapy drugs. They also are often not good candidates for surgery because they are dangerously close to vital organs.

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Contact: Eric Schoch
eschoch@iu.edu
317-274-7722
Indiana University
Source:Eurekalert  

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IU researchers report first effective treatment of tumors arising from common genetic disease NF1
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