Dataset Information

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

ABSTRACT:

Background

MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Here, we have performed an array-CGH and qPCR characterization of two patients with constitutional partial 2p trisomy including MYCN genomic region.

Results

One of the patients had congenital neuroblastoma and showed presence of minute areas of gains and losses within the common fragile site FRA2C at 2p24 encompassing MYCN. The link between 2p24 germline rearrangements and neuroblastoma development was reassessed by reviewing similar cases in the literature.

Conclusions

It appears that constitutional rearrangements involving chromosome 2p24 may play role in NB development.

SUBMITTER: Lipska BS

PROVIDER: S-EPMC3819649 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature

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Publications

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Lipska Beata S BS Koczkowska Magdalena M Wierzba Jolanta J Ploszynska Anna A Iliszko Mariola M Izycka-Swieszewska Ewa E Adamkiewicz-Drozynska Elzbieta E Limon Janusz J

Molecular cytogenetics 20131016 1

<h4>Background</h4>MYCN oncogene amplification is the most important prognostic factor in neuroblastoma. 25% neuroblastoma tumors have somatic amplifications at this locus but little is known about its constitutional aberrations and their potential role in carcinogenesis. Here, we have performed an array-CGH and qPCR characterization of two patients with constitutional partial 2p trisomy including MYCN genomic region.<h4>Results</h4>One of the patients had congenital neuroblastoma and showed pre ...[more]

PMID: 24131700

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Project description:BackgroundNeuroblastoma patients with MYCN amplification are associated with poor prognosis. However, the prognostic relevance of MYCN associated genes in neuroblastoma is unclear.MethodsThe expression profiles of MYCN associated genes were identified from Therapeutically Applicable Research to Generate Effective Treatments (TARGET) and Gene Expression Omnibus (GEO) datasets. Enriched transcription factors and signaling pathways were determined using gene set enrichment analysis (GSEA). Kaplan-Meier plotter was used to identify the prognostic relevance of MYCN associated genes. Multivariate cox regression and Spearman's correlation were used to determine the correlation coefficients of MYCN associated genes.ResultsIn TARGET and GSE85047 datasets, neuroblastoma patients with MYCN amplification were associated with worse prognosis. Transcription factor MYC was positively associated with MYCN amplification in GSEA assay. We identified 13 MYC target genes which were increased in neuroblastoma patients with MYCN amplification in TARGET, GSE19274 and GSE85047 datasets. Moreover, six out of the 13 MYC target genes ARMC6, DCTPP1, EIF4G1, ELOVL6, FBL and PRMT1 were associated with adverse prognosis in TARGET and GSE85047 datasets. Transcription factor E2F1 was up-regulated by MYCN amplification and associated with the poor prognosis of neuroblastoma. Furthermore, RPS19 in ribosome signaling pathway was also associated with MYCN amplification and correlated with the poor prognosis of neuroblastoma. At last, we showed that most of MYCN target genes were correlated with each other. However, EIF4G1 was an independent prognostic marker. And the prognostic effects of the combination of MYCN amplification and EIF4G1 expression were more significant than MYCN or EIF4G1 alone.ConclusionsMYCN target genes ARMC6, DCTPP1, EIF4G1, ELOVL6, FBL, PRMT1, E2F1 and RPS19 had significant prognostic effects in pediatric neuroblastoma. And neuroblastoma patients without MYCN amplification and low EIF4G1 expression had best prognosis.

Dataset Information

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Background

Results

Conclusions

Publications

On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma.

Similar Datasets

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