Comprehensive genomic screening may be warranted on all patients with pediatric cancer and not just those with a family history of cancer, according to a new study published in The New England Journal of Medicine.1

Researchers conducted the most detailed analysis to date on the role of germline mutations in genes associated with cancer predisposition in childhood cancer and found that more than 8% of children with cancer have genetic predisposition.

“This study certainly represents an important milestone,” said study author Li Ding, PhD, who is with the McDonnell Genome Institute at Washington University, St. Louis, MO. “This is the first large-scale, unbiased study for investigating pediatric cancer susceptibility.”

Dr. Ding and her colleagues conducted next-generation DNA sequencing of both the tumor and normal tissues from 1120 patients with pediatric cancer and found that 8.5% of patients had pathogenic or likely pathogenic mutations of genes within their normal tissue that increased their risk of developing cancer.


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Prior to this study, the presence of such germline mutations in pediatric cancer patients was thought to be extremely rare and restricted to children in families with strong histories of cancer. This study revealed that more than half of the children with germline mutations lacked any family history of cancer.

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“Family history does not predict the presence of an underlying predisposition syndrome in most patients,” Dr. Ding told Cancer Therapy Advisor. “A follow-up study using a larger cohort would be the logical next step. It is also important to have sufficient sample size for individual cancer types for allowing the investigation of susceptibility of specific cancers.”

It is theorized that comprehensive next-generation DNA sequencing of both a tumor and normal tissue in a pediatric cancer patient may provide valuable information that will not only influence clinical management but also lead to genetic counseling and testing of their parents and siblings who may be at risk.