Gene Variants Predict Child Neuroblastoma Risk

Potential biomarkers predicting a child's risk for developing neuroblastoma are linked to common variants in the MMP20 (matrix metalloproteinase-20) gene on chromosome 11q.

Investigators at Children's Hospital of Philadelphia (PA, USA) used a genome-wide association study (GWAS) to identify common variants at chromosome locus 11q22.2 within MMP20 that associated with neuroblastoma cases harboring an 11q deletion in 113 European-American cases and 5109 ancestry-matched controls. The association was replicated in 44 independent cases and 1902 controls.


"These inherited variants predispose to 11q deletions, which are a strong risk factor," said Dr. Hakon Hakonarson, director of the center for applied genomics at Children's Hospital of Philadelphia.

"We already knew that 11q deletions are biomarkers that predict poor outcomes in neuroblastoma," said contributing author Dr. John M. Maris, pediatric oncologist at Children's Hospital of Philadelphia. "This new research helps us to more precisely predict how a neuroblastoma tumor will behave, so it improves our diagnostic capabilities."

The study was published in the September 18, 2017, online edition of the journal Nature Communications.

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