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Gene Variation Linked to Neuroblastoma, a Childhood Cancer
Date:5/7/2008

s us to believe that the disease we call high-risk or low-risk neuroblastoma are really different diseases," he said.

The findings were published in the May 7 online edition of the New England Journal of Medicine.

For the study, Maris' team analyzed blood samples from 1,032 children with neuroblastoma and 2,043 children without the disease. The researchers honed in on three single nucleotide polymorphisms (SNPs) -- which are variations in DNA -- that were more common in patients with neuroblastoma than in patients without the disease. The three SNPs were clustered in the 6p22 region of chromosome 6. There are two genes in this region, but exactly what they do is unknown, the researchers said.

To confirm their findings, Maris' group analyzed blood samples from additional neuroblastoma patients and children without the disease. Among these additional patients, the researchers also found that variants in the 6p22 region were associated with increased risk for neuroblastoma.

"This finding gives us the motivation to continue this line of research to discover all of the different genetic variations that work together," Maris said. "We have already discovered additional variations."

Knowing the complete genetic influences on neuroblastoma may eventually lead to new treatments, he said.

Dr. Len Lichtenfeld, deputy chief medical officer of the American Cancer Society, said that the new findings could one day lead to better diagnosis and treatment of the malignancy. "We still need to understand what these genes do, because little is known about these genes," he said.

Lichtenfeld added that, while the new research is important, it's still very preliminary. "Ultimately, what you want to do is to analyze the cancer and gain clues as to what the prognosis may be and what the appropriate treatment may be," he said. "This does not get us there, but it is one step along that pathway."

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