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Article: Genome-wide analysis of DNA copy number alterations and loss of heterozygosity in intracranial germ cell tumors.

TitleGenome-wide analysis of DNA copy number alterations and loss of heterozygosity in intracranial germ cell tumors.
Authors
Issue Date2014
PublisherJohn Wiley & Sons. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1545-5017/
Citation
Pediatric Blood & Cancer, 2014, v. 61, p. 593-600 How to Cite?
AbstractBACKGROUNDS: Intracranial germ cell tumors (GCTs) are rare and heterogeneous with very little is known about their pathogenesis and underlying genetic abnormalities. PROCEDURES: In order to identify candidate genes and pathways which are involved in the pathogenesis of these tumors, we have profiled 62 intracranial GCTs for DNA copy number alterations (CNAs) and loss of heterozygosity (LOH) by using single nucleotide polymorphism (SNP) array and quantitative real time PCR (qPCR). RESULTS: Initially 27 cases of tumor tissues with matched blood samples were fully analyzed by SNP microarray and qPCR. Statistical analysis using the genomic identification of significant targets in cancer (GISTIC) tool identified 10 regions of significant copy number gain and 11 regions of significant copy number loss. While overall pattern of genomic aberration was similar between germinoma and nongerminomatous germ cell tumors (NGGCTs), a few subtype-specific peak regions were identified. Analysis by SNP array and qPCR was replicated using an independent cohort of 35 cases. CONCLUSIONS: Frequent aberrations of CCND2 (12p13) and RB1 (13q14) suggest that Cyclin/CDK-RB-E2F pathway might play a critical role in the pathogenesis of intracranial GCTs. Frequent gain of PRDM14 (8q13) implies that transcriptional regulation of primordial germ cell specification might be an important factor in the development of this tumor.
Persistent Identifierhttp://hdl.handle.net/10722/200599
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorTerashima, Ken_US
dc.contributor.authorYu, Aen_US
dc.contributor.authorChow, WYen_US
dc.contributor.authorHsu, WCen_US
dc.contributor.authorChen, Pen_US
dc.contributor.authorWong, STen_US
dc.contributor.authorHung, YSen_US
dc.contributor.authorSuzuki, Ten_US
dc.contributor.authorNishikawa, Ren_US
dc.contributor.authorMatsutani, Men_US
dc.contributor.authorNakamura, Hen_US
dc.contributor.authorNg, HKen_US
dc.contributor.authorAllen, JCen_US
dc.contributor.authorSu, JMen_US
dc.contributor.authorAdesina, AMen_US
dc.contributor.authorLeung, HCen_US
dc.contributor.authorMan, TKen_US
dc.contributor.authorLau, CCen_US
dc.date.accessioned2014-08-21T06:52:30Z-
dc.date.available2014-08-21T06:52:30Z-
dc.date.issued2014en_US
dc.identifier.citationPediatric Blood & Cancer, 2014, v. 61, p. 593-600en_US
dc.identifier.urihttp://hdl.handle.net/10722/200599-
dc.description.abstractBACKGROUNDS: Intracranial germ cell tumors (GCTs) are rare and heterogeneous with very little is known about their pathogenesis and underlying genetic abnormalities. PROCEDURES: In order to identify candidate genes and pathways which are involved in the pathogenesis of these tumors, we have profiled 62 intracranial GCTs for DNA copy number alterations (CNAs) and loss of heterozygosity (LOH) by using single nucleotide polymorphism (SNP) array and quantitative real time PCR (qPCR). RESULTS: Initially 27 cases of tumor tissues with matched blood samples were fully analyzed by SNP microarray and qPCR. Statistical analysis using the genomic identification of significant targets in cancer (GISTIC) tool identified 10 regions of significant copy number gain and 11 regions of significant copy number loss. While overall pattern of genomic aberration was similar between germinoma and nongerminomatous germ cell tumors (NGGCTs), a few subtype-specific peak regions were identified. Analysis by SNP array and qPCR was replicated using an independent cohort of 35 cases. CONCLUSIONS: Frequent aberrations of CCND2 (12p13) and RB1 (13q14) suggest that Cyclin/CDK-RB-E2F pathway might play a critical role in the pathogenesis of intracranial GCTs. Frequent gain of PRDM14 (8q13) implies that transcriptional regulation of primordial germ cell specification might be an important factor in the development of this tumor.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1545-5017/en_US
dc.relation.ispartofPediatric Blood & Canceren_US
dc.rightsPediatric Blood & Cancer. Copyright © John Wiley & Sons.en_US
dc.rightsSpecial Statement for Preprint only Before publication: 'This is a preprint of an article accepted for publication in [The Journal of Pathology] Copyright © ([year]) ([Pathological Society of Great Britain and Ireland])'. After publication: the preprint notice should be amended to follows: 'This is a preprint of an article published in [include the complete citation information for the final version of the Contribution as published in the print edition of the Journal]' For Cochrane Library/ Cochrane Database of Systematic Reviews, add statement & acknowledgement : ‘This review is published as a Cochrane Review in the Cochrane Database of Systematic Reviews 20XX, Issue X. Cochrane Reviews are regularly updated as new evidence emerges and in response to comments and criticisms, and the Cochrane Database of Systematic Reviews should be consulted for the most recent version of the Review.’ Please include reference to the Review and hyperlink to the original version using the following format e.g. Authors. Title of Review. Cochrane Database of Systematic Reviews 20XX, Issue #. Art. No.: CD00XXXX. DOI: 10.1002/14651858.CD00XXXX (insert persistent link to the article by using the URL: http://dx.doi.org/10.1002/14651858.CD00XXXX) (This statement should refer to the most recent issue of the Cochrane Database of Systematic Reviews in which the Review published.)en_US
dc.titleGenome-wide analysis of DNA copy number alterations and loss of heterozygosity in intracranial germ cell tumors.en_US
dc.typeArticleen_US
dc.identifier.emailChen, P: pkchen@hku.hken_US
dc.identifier.emailHung, YS: yshung@eee.hku.hken_US
dc.identifier.authorityHung, YS=rp00220en_US
dc.identifier.doi10.1002/pbc.24833en_US
dc.identifier.pmid24249158-
dc.identifier.hkuros232122en_US
dc.identifier.volume61en_US
dc.identifier.spage593en_US
dc.identifier.epage600en_US
dc.identifier.isiWOS:000330683700004-
dc.publisher.placeMalden, MA, USAen_US

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