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Neuroblastoma is the most frequently diagnosed extracranial solid tumour in childhood. While a subset of tumours show spontaneous regression or complete remission following conventional treatment, a substantial number remain resistant to intensive multimodal therapies. Survival rates approaching 40% place high-risk neuroblastoma as one of the greatest challenges in paediatric oncology. This contemporary review provides an update on the diagnosis, risk stratification and management for this enigmatic tumour.
Neuroblastoma is the most common extracranial solid tumour in childhood and the most frequently diagnosed neoplasm during infancy.1 This malignant tumour consists of undifferentiated and/or differentiating cells originating from neural crest-derived sympathoadrenal precursors. Neuroblastoma is often described as “enigmatic” and “unpredictable” because of the broad spectrum of clinical behaviour ranging from life-threatening progression despite intensive treatment to complete spontaneous regression. Although outcome for certain subsets of patients has improved over the past few decades, children with high-risk disease continue to have less than 40% long-term survival.2 New therapeutic options are being sought through advances in basic science and translational clinical research.
Epidemiology, genetic predisposition and risk factors
Neuroblastoma accounts for more than 7% of malignancies in patients younger than 15 years and around 15% of all paediatric oncology deaths.3 The incidence of neuroblastoma in predominantly Caucasian populations is 9–12 per million children.4 A family history of neuroblastoma has been reported in 1% to 2% of patients5 and follows an autosomal dominant pattern of inheritance. Supporting the Knudson two-mutation hypothesis, the median age at diagnosis for familial neuroblastoma cases is 9 months compared to 18 months in sporadic cases.3 Associations with Hirschsprung disease and congenital central hypoventilation syndrome6 with a shared PHOX2b mutation proposed to explain this link7 have been reported, as has neurofibromatosis type 1.8 At present, genetic predisposition to neuroblastoma appears to be heterogeneous and hence tumourigenesis is postulated …
Competing interests None.
Provenance and peer review Commissioned; externally peer reviewed.