Rare inherited pathogenic germline variants observed in sporadic paediatric neuroblastoma cases

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Published: 11 May 2021
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Dr Emily Blauel - Children’s Hospital of Philadelphia, Philadelphia, USA

Dr Emily Blauel speaks to ecancer about her study that observed rare pathogenic inherited germline variants in sporadic paediatric neuroblastoma cases. This study was presented at AACR 2021.

Dr Blauel explains that approximately 1-2 percent of all cases have a positive family history of disease, and are classified as familial neuroblastoma. In these cases, patients are likely to have an underlying pathogenic germline mutation in the ALK or PHOX2B gene.

The remaining cases, which represent the vast majority, are thought to arise sporadically. She further discusses the rationale behind this study, its methodology and the key results obtained from it.

Dr Blauel mentions that her study shows that paediatric patients with sporadic neuroblastoma harboured rare pathogenic variants in cancer predisposition genes that were inherited and associated with worse disease outcomes. In the end, she talks about how the data from this study can impact the future treatment of neuroblastoma.