Gene Variation Linked to Neuroblastoma, a Childhood Cancer

The variant is common in the aggressive form of the disease, researchers report

By Steven Reinberg
HealthDay Reporter

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WEDNESDAY, May 7 (HealthDay News) -- For the first time, a gene linked to the often fatal childhood cancer neuroblastoma has been identified, researchers report.

"This is the first paper that helps us understand what causes this childhood cancer," said lead researcher Dr. John M. Maris, director of the Center for Childhood Cancer Research at The Children's Hospital of Philadelphia. "We expected for decades that this cancer was a genetic disease, but we have had a hard time understanding what abnormalities in our genetic makeup lead to this cancer."

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Neuroblastoma, a cancer of the peripheral nervous system that usually appears as a solid tumor in the chest or abdomen, is the most common solid tumor malignancy seen in early childhood. Among infants, it can disappear with minimal treatment, but in older children, it can be an aggressive cancer spreading throughout the body. Neuroblastoma accounts for 7 percent of all childhood cancers but causes 15 percent of all childhood cancer deaths. There are about 700 new cases diagnosed each year in the United States, the researchers said.

Maris' team found a common genetic variation of the gene 6p22 on chromosome 6, which doubles the risk of getting this disease. "This finding supports our assumption that there are a number of minor variations that work together -- in sort of a perfect storm -- to give a child this disease," he said. "This finding is the discovery of the first of these genetic variants."

Maris noted that this is the first time a childhood cancer has been found to be influenced by rather common genetic changes "that can be in you or me or anyone."

In addition, Maris said that having this particular genetic variation not only increases the risk of developing neuroblastoma, but also increases the risk of developing the more aggressive form of the disease. "This leads us to believe that the disease we call high-risk or low-risk neuroblastoma are really different diseases," he said.

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