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Researchers find gene location that gives rise to neuroblastoma, an aggressive childhood cancer
Date:5/7/2008

with neuroblastoma, added Maris.

However, little was known about genetic events that predispose a child to developing a neuroblastoma tumor. In roughly half of neuroblastoma cases, the cancer is not discovered until it has spread widely in a patients body, so understanding how a tumor originates may allow oncologists to design earlier and more successful interventions.

In the current study, Mariss team collaborated with Hakon Hakonarson, M.D., Ph.D., director of Childrens Hospitals Center for Applied Genomics, to analyze blood samples from approximately 1,000 neuroblastoma patients, as well as samples from some 2,000 healthy children recruited through the Childrens Hospital network. A DNA chip analysis performed at the genome center identified three single nucleotide polymorphisms (SNPs)changes in single bases on the DNA helix. Out of over 550,000 SNPs studied, those SNPs were much more common in patients with neuroblastoma, compared to the controls. The three SNPs occurred together on a band of chromosome 6 designated 6p22.

The researchers repeated the analysis in blood samples from additional groups of patients and control subjects from the U.S. and the U.K., and confirmed their finding that variants in the 6p22 region were implicated in neuroblastoma. There are two genes in the 6p22 region, but their functions are largely unknown.

We are doing further studies to understand how these relatively common genetic changes translate into increased risk of cancer, said Maris. Ultimately, they probably cause subtle changes in gene expression during early development, interacting with other genes yet to be discovered. This suggests that neuroblastoma has complex causes, in which a series of genetic changes may occur at different sites to combine into a perfect storm that results in this cancer.

The researchers found that patients with these at-risk SNPs on chromosome 6 were more likely to develop aggressive neuroblastoma. The
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Contact: Rachel Salis-Silverman
Salis@email.chop.edu
267-426-6063
Children's Hospital of Philadelphia
Source:Eurekalert

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