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The role of omics in neuroblastoma: Patient’s risk classification and personalised therapy

Maria Rosaria Esposito ()
Sanja Aveic ()
Anke Seydel ()
Gian Paolo Tonini ()


Neuroblastoma is an embryonic malignancy of early childhood that originates from neural crest cells and shows heterogeneous biological, morphological, genetic, and clinical characteristics. MYCN oncogene amplification has been observed in 20% of neuroblastoma cases and is one of the most reliable prognostic markers of this tumour. In the last decade, microarray comparative genomic hybridization (CGH) has been widely employed to discover genome abnormalities and to evaluate patient’s risk. Several numerical and structural copy number variations including the loss of 1p, 3p, 9p, 11q, and 14q, along with the gain of 2p and 17q, was observed to be mainly associated with high-risk neuroblastoma. Extensive studies have been carried out to identify gene signatures associated with tumour progression and at least two gene signatures, the 59-gene and the 146-gene, can be used to significantly discriminate between low- and high-risk patients. Subsequently, the advent of next-generation sequencing has shown that neuroblastoma is characterised by a low number of damaging somatic mutations. Furthermore, mutations occurring in ALKATRX, and TERT genes play a crucial role in neuroblastoma development. This raises the possibility of performing next-generation sequencing signature to refine a patient’s risk classification. Omics data have allowed us to improve the diagnostic of neuroblastoma and to identify biological targets that are suitable for precision medicine. The present review highlights the paramount importance of omics in neuroblastoma and updates the most recent advances in this area that are associated with personalised medicine of patients with neuroblastoma.


genomic alterations; next-generation sequencing; neuroblastoma; omics; personalised medicine; targeted therapy

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