» Articles » PMID: 23274701

The Role of Genetic and Epigenetic Alterations in Neuroblastoma Disease Pathogenesis

Overview
Date 2013 Jan 1
PMID 23274701
Citations 31
Authors
Affiliations
Soon will be listed here.
Abstract

Neuroblastoma is a highly heterogeneous tumor accounting for 15 % of all pediatric cancer deaths. Clinical behavior ranges from the spontaneous regression of localized, asymptomatic tumors, as well as metastasized tumors in infants, to rapid progression and resistance to therapy. Genomic amplification of the MYCN oncogene has been used to predict outcome in neuroblastoma for over 30 years, however, recent methodological advances including miRNA and mRNA profiling, comparative genomic hybridization (array-CGH), and whole-genome sequencing have enabled the detailed analysis of the neuroblastoma genome, leading to the identification of new prognostic markers and better patient stratification. In this review, we will describe the main genetic factors responsible for these diverse clinical phenotypes in neuroblastoma, the chronology of their discovery, and the impact on patient prognosis.

Citing Articles

Prediction of Composite Clinical Outcomes for Childhood Neuroblastoma Using Multi-Omics Data and Machine Learning.

Wang P, Zhang J Int J Mol Sci. 2025; 26(1.

PMID: 39795994 PMC: 11720239. DOI: 10.3390/ijms26010136.


In vivo cisplatin-resistant neuroblastoma metastatic model reveals tumour necrosis factor receptor superfamily member 4 (TNFRSF4) as an independent prognostic factor of survival in neuroblastoma.

Murphy C, Devis-Jauregui L, Struck R, Boloix A, Gallagher C, Gavin C PLoS One. 2024; 19(5):e0303643.

PMID: 38809883 PMC: 11135766. DOI: 10.1371/journal.pone.0303643.


Epigenetic Dysregulation in -Amplified Neuroblastoma.

Epp S, Chuah S, Halasz M Int J Mol Sci. 2023; 24(23).

PMID: 38069407 PMC: 10707345. DOI: 10.3390/ijms242317085.


Repurposing disulfiram, an alcohol-abuse drug, in neuroblastoma causes KAT2A downregulation and in vivo activity with a water/oil emulsion.

Beaudry A, Jacques-Ricard S, Darracq A, Sgarioto N, Garcia A, Rode Garcia T Sci Rep. 2023; 13(1):16443.

PMID: 37777587 PMC: 10543387. DOI: 10.1038/s41598-023-43219-2.


Characterization of m6A-related lncRNA signature in neuroblastoma.

Li L, Chen S, Li J, Rong G, Yang J, Li Y Front Pediatr. 2022; 10:927885.

PMID: 36324814 PMC: 9618704. DOI: 10.3389/fped.2022.927885.


References
1.
McConville C, Reid S, Baskcomb L, Douglas J, Rahman N . PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A. 2006; 140(12):1297-301. DOI: 10.1002/ajmg.a.31278. View

2.
Chen Y, Stallings R . Differential patterns of microRNA expression in neuroblastoma are correlated with prognosis, differentiation, and apoptosis. Cancer Res. 2007; 67(3):976-83. DOI: 10.1158/0008-5472.CAN-06-3667. View

3.
Thompson P, Gotoh T, Kok M, White P, Brodeur G . CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system. Oncogene. 2003; 22(7):1002-11. DOI: 10.1038/sj.onc.1206211. View

4.
Viswanathan S, Powers J, Einhorn W, Hoshida Y, Ng T, Toffanin S . Lin28 promotes transformation and is associated with advanced human malignancies. Nat Genet. 2009; 41(7):843-8. PMC: 2757943. DOI: 10.1038/ng.392. View

5.
Celeste A, Difilippantonio S, Difilippantonio M, Fernandez-Capetillo O, Pilch D, Sedelnikova O . H2AX haploinsufficiency modifies genomic stability and tumor susceptibility. Cell. 2003; 114(3):371-383. PMC: 4737479. DOI: 10.1016/s0092-8674(03)00567-1. View