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New Treatment Sought for Neurofibromatosis

August 12, 2008

U.S. medical scientists say they have discovered a mutation that causes a childhood tumor syndrome also impairs growth hormone secretion.

Washington University School of Medicine researchers said their discovery provides insights into a medical mystery: why patients with neurofibromatosis type 1 are frequently shorter than their peers.

The researchers said the finding has led scientists to consider modifying their search for treatments for the inherited disorder, which is caused by a mutation in the neurofibromin 1, or NF1, gene and is characterized by an increased risk of cancer.

“We’ve learned that the NF1 gene affects stature through a different pathway than the one we’ve previously focused on to understand cancers in patients with neurofibromatosis type 1,” said Dr. David Gutmann. “Given that this second pathway has been linked to cancer in other contexts, we may need to consider the possibility that it is contributing to these tumors and alter our treatment goals accordingly.”

Neurofibromatosis 1 affects more than 100,000 people in the United States and is one of the most common tumor predisposition syndromes.

The study’s findings appear online in the journal Human Molecular Genetics.




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