Cell and Tissue Research

, Volume 372, Issue 2, pp 287–307 | Cite as

Genetic susceptibility to neuroblastoma: current knowledge and future directions

  • Laura E. Ritenour
  • Michael P. Randall
  • Kristopher R. Bosse
  • Sharon J. Diskin


Neuroblastoma, a malignancy of the developing peripheral nervous system that affects infants and young children, is a complex genetic disease. Over the past two decades, significant progress has been made toward understanding the genetic determinants that predispose to this often lethal childhood cancer. Approximately 1–2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset. The genetic basis of “sporadic” neuroblastoma is being studied through a large genome-wide association study (GWAS). These efforts have led to the discovery of many common susceptibility alleles, each with modest effect size, associated with the development and progression of sporadic neuroblastoma. More recently, next-generation sequencing efforts have expanded the list of potential neuroblastoma-predisposing mutations to include rare germline variants with a predicted larger effect size. The evolving characterization of neuroblastoma’s genetic basis has led to a deeper understanding of the molecular events driving tumorigenesis, more precise risk stratification and prognostics and novel therapeutic strategies. This review details the contemporary understanding of neuroblastoma’s genetic predisposition, including recent advances and discusses ongoing efforts to address gaps in our knowledge regarding this malignancy’s complex genetic underpinnings.


Neuroblastoma susceptibility Germline Familial neuroblastoma Genome-wide association studies Pediatric cancer 


Funding information

L.E.R. was supported in part by National Institutes of Health Predoctoral Training Grant T32GM008216. M.P.R was supported by the Howard Hughes Medical Institute (HHMI) Medical Research Fellows Program. K.R.B. is a Damon Runyon Physician-Scientist supported (in part) by the Damon Runyon Cancer Research Foundation (PST-07-16). S.J.D. was supported, in part, through National Institutes of Health Grants R01CA204974, R01CA124709 and R01CA180692.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Laura E. Ritenour
    • 1
    • 2
    • 3
  • Michael P. Randall
    • 2
    • 3
    • 4
  • Kristopher R. Bosse
    • 2
    • 3
    • 4
  • Sharon J. Diskin
    • 1
    • 2
    • 3
    • 4
    • 5
  1. 1.Cell and Molecular Biology Graduate Group, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Division of OncologyChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  3. 3.Center for Childhood Cancer ResearchChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Department of Pediatrics, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA
  5. 5.Abramson Family Cancer Research Institute, Perelman School of MedicineUniversity of PennsylvaniaPhiladelphiaUSA

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