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Gene found for rare and deadly childhood cancer

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Reuters Health

Monday, August 25, 2008

WASHINGTON (Reuters) - Researchers have found a gene that causes most inherited forms of neuroblastoma, a rare and deadly form of childhood cancer, and say the discovery points to new treatments.

Mutations in a gene called ALK were strongly linked to neuroblastoma, the researchers from the United States, Italy and Belgium reported on Sunday. They said several companies already are working on drugs that target this gene, which is also mutated in some cases of lung cancer and lymphoma.

"This discovery enables us to offer the first genetic tests to families affected by the inherited form of this disease," said Dr. Yael Mosse of The Children's Hospital of Philadelphia, who worked on the study.

"Furthermore, because there already are drugs in development that target the same gene in adult cancers, we can soon begin testing those drugs in children with neuroblastoma."

Neuroblastoma accounts for 15 percent of childhood cancer deaths, with just a 40 percent survival rate, even though it only causes about 7 percent of all pediatric cancers.

Writing in the journal Nature, the team at Children's Hospital, the Scripps Research Institute in La Jolla, California, and elsewhere said they studied 20 families with one or more children with neuroblastoma.

They found mutations in the ALK gene that cause it to be constantly active in helping cells proliferate. Out-of-control proliferation is the hallmark of cancer.

"This is a very important discovery, as it not only helps us understand the genetic roots of this terrible disease, but also has led to dramatically new ideas for curative therapy," said Dr. John Maris of Children's Hospital, who directed the study.

After finding the ALK mutations in familial neuroblastoma, the researchers looked at sporadic cases -- those not occurring in families with a history of the disease. They found ALK mutations in 12 percent of 194 tumor samples from children with the aggressive, high-risk form of the disease.

Reuters Health

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