Molecular Genetics of Neuroblastoma

Abstract

Neuroblastoma is the most common extracranial solid tumor of childhood derived from primitive neural crest cells of the sympathetic nervous system. Recent next-generation sequencing and genome-wide association studies of tumor samples from neuroblastoma patients have discovered new germline mutations, multiple somatically acquired genetic alterations, and single nucleotide polymorphisms in the past decade, which have led to a more comprehensive understanding of the underlying genetic events that predispose to the development of neuroblastoma. To understand the genetic underpinnings of neuroblastoma, this chapter will review the molecular genetics of this pediatric tumor, emphasizing the most recent discoveries concerning genetic mutations, epigenetic alterations, and single nucleotide polymorphisms that are associated with neuroblastoma predisposition and pathogenesis, and how this information is leading to novel approaches to targeted therapy.