Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2018 Aug 31;5(9):119.
doi: 10.3390/children5090119.

Genetic Predisposition to Neuroblastoma

Affiliations
Review

Genetic Predisposition to Neuroblastoma

Erin K Barr et al. Children (Basel). .

Abstract

Neuroblastoma is the most common solid tumor in children under the age of one. It displays remarkable phenotypic heterogeneity, resulting in differences in outcomes that correlate with clinical and biologic features at diagnosis. While neuroblastoma accounts for approximately 5% of all cancer diagnoses in pediatrics, it disproportionately results in about 9% of all childhood deaths. Research advances over the decades have led to an improved understanding of neuroblastoma biology. However, the initiating events that lead to the development of neuroblastoma remain to be fully elucidated. It has only been recently that advances in genetics and genomics have allowed researchers to unravel the predisposing factors enabling the development of neuroblastoma and fully appreciate the interplay between the genetics of tumor and host. In this review, we outline the current understanding of familial neuroblastoma and highlight germline variations that predispose children to sporadic disease. We also discuss promising future directions in neuroblastoma genomic research and potential clinical applications for these advances.

Keywords: genome-wide association study (GWAS); germline; neuroblastoma; predisposition.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest. The founding sponsors had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, and in the decision to publish the results.

Figures

Figure 1
Figure 1
Timeline of identified genetic variation predisposing to neuroblastoma. GWAS, genome-wide association studies.

References

    1. Matthay K.K., Maris J.M., Schleiermacher G., Nakagawara A., Mackall C.L., Diller L., Weiss W.A. Neuroblastoma. Nat. Rev. Dis. Primers. 2016;2:16078. doi: 10.1038/nrdp.2016.78. - DOI - PubMed
    1. Smith M.A., Seibel N.L., Altekruse S.F., Ries L.A., Melbert D.L., O’Leary M., Smith F.O., Reaman G.H. Outcomes for children and adolescents with cancer: Challenges for the twenty-first century. J. Clin. Oncol. 2010;28:2625–2634. doi: 10.1200/JCO.2009.27.0421. - DOI - PMC - PubMed
    1. Baker D.L., Schmidt M.L., Cohn S.L., Maris J.M., London W.B., Buxton A., Stram D., Castleberry R.P., Shimada H., Sandler A., et al. Outcome after reduced chemotherapy for intermediate-risk neuroblastoma. N. Engl. J. Med. 2010;363:1313–1323. doi: 10.1056/NEJMoa1001527. - DOI - PMC - PubMed
    1. Pinto N.R., Applebaum M.A., Volchenboum S.L., Matthay K.K., London W.B., Ambros P.F., Nakagawara A., Berthold F., Schleiermacher G., Park J.R., et al. Advances in risk classification and treatment strategies for neuroblastoma. J. Clin. Oncol. 2015;33:3008–3017. doi: 10.1200/JCO.2014.59.4648. - DOI - PMC - PubMed
    1. Nuchtern J.G., London W.B., Barnewolt C.E., Naranjo A., McGrady P.W., Geiger J.D., Diller L., Schmidt M.L., Maris J.M., Cohn S.L., et al. A prospective study of expectant observation as primary therapy for neuroblastoma in young infants a children’s oncology group study. Ann. Surg. 2012;256:573–580. doi: 10.1097/SLA.0b013e31826cbbbd. - DOI - PMC - PubMed

LinkOut - more resources