Abstract:
Neuroblastoma (NB) is an embryonic malignancy arising from the neural crest cells of the sympathetic nervous system. It exhibits a high degree of biological and clinical heterogeneity. Genome sequencing studies have shown that NB has a low mutational load and few recurrent mutations. However, NB exhibits a high number of genomic structural variants, which are important drivers of tumorigenesis and progression. Genomic structural variants, such as MYCN amplification and 11q deletion, have been used as biomarkers for risk stratification in clinical practice. Nevertheless, a gap still exists between the understanding of genomic structural variants in NB and its biological and clinical heterogeneity. The development of high-throughput genomics technologies has promoted a more comprehensive understanding of the genomic features of NB, especially its structural variants. Further understanding of the involvement of these genomic characteristics in tumorigenesis and progression will help clarify risk stratification. In this paper, we review the current research on characterization of genomic structural variant in NB.