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In neuroblastoma (NB), age at diagnosis is a strong prognostic factor. Hereby, we evaluated whether patients with metastatic NB below 1 year of age (infants) expressed lower levels of NB-specific molecular markers compared to patients over 1 year (children). Bone marrow (BM) and peripheral blood (PB) samples collected at diagnosis from 54 Italian patients with metastatic NB were analysed by RT-qPCR for TH, PHOX2B and DCX mRNA expression. Statistical analyses were then performed to evaluate the diagnostic performance and the association with other known prognostic factors. In spite of similar levels of morphological BM infiltration, TH, PHOX2B and DCX i expression levels in BM and PB samples were significantly lower in stage 4 infants than in children. Between infants with stage 4 and 4S, the former expressed significantly higher levels in BM samples but similar levels in PB samples. In children with stage 4 NB, TH expression levels significantly associated with the presence of BM and skeletal metastasis. Thus, RT-qPCR analysis of BM and PB samples showed potential clinical significance that should be evaluated in future multicentre prospective studies for infants with metastatic NB in comparison with conventional morphological evaluation and other prognostic factors evaluable in the primary tumors.

Infants and Children with Stage 4 Neuroblastoma Express Significantly Different Levels of Specific Molecular Markers