Neuroblastoma genetics and phenotype: a tale of heterogeneity

Abstract

Cancer is a complex disease driven by multiple genetic and epigenetic alterations. Understanding the (epi-)genetic changes and consequent deregulation of regulatory networks controlling the various normal critical cellular phenotypes that are perturbed in cancer cells can provide clues to new therapeutic opportunities. Moreover, such insights into the molecular pathology of a given cancer type can offer clinical relevant genetic markers or molecular signatures for assessment of prognosis and response to therapy, and prediction of risk for relapse. Therefore, as for many other tumour entities, neuroblastoma (NB) has been the subject of intensive ongoing genomic research. Here we will summarize the current state-of-the-art of these studies with focus on genome wide DNA copy number and gene expression analyses in relation to the relevance for present and future clinical management of NB patients.