Identifying large-scale chromosomal damage through a whole-genome scan can help doctors choose the best option for treatment of neuroblastoma in children. An international collaboration led by The Institute of Cancer Research, London, England, called for all children with neuroblastoma to undergo a whole-genome scan as a standard part of their treatment. The study was published in the British Journal of Cancer.

“Our study has found that every single patient diagnosed with neuroblastoma should have a whole genome assessment. The technology required to carry out these scans has become much more widely available and cheaper over recent years, and we believe most diagnostic labs in developed countries worldwide should have this capacity. These gene tests would help doctors provide a more accurate prognosis and decide the best treatment for their patients, which could potentially save more lives and spare other children the risk of serious side effects,” stated senior author Professor Andy Pearson, who is Cancer Research UK professor of pediatric oncology at The Institute of Cancer Research and a pediatric consultant at The Royal Marsden NHS Foundation Trust.

The study examined the medical records of 8,800 neuroblastoma patients from around the world. Several large-scale genetic faults were found to be strongly linked to survival rates. This meant that a whole-genome scan would therefore be more effective at predicting prognosis than tests for individual genetic factors.

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The same team, named the International Neuroblastoma Risk Group, had earlier proposed classifying tumors based on 13 characteristics that include the status of three genetic alterations (ploidy, MYCN, and the segmental gene alteration 11q). This new study links patient survival to two further segmental gene alterations, which are mutations that involve the duplication or deletion of large sections of DNA. Specifically, patient survival is now linked to 1p status and 17q status.

Further, the study concluded that scanning the whole genome provided the most prognostic information, because it took all these factors into account and also accounted for less frequent but important genetic changes that also impacted survival. Next, the research team plans to update the classification system for neuroblastoma to incorporate the new information. This update should improve the personalized approach to therapy for neuroblastoma.