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Novel amplifications in pediatric medulloblastoma identified by genome-wide copy number profiling
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Barnonkologisk forskning/Pfeifer)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
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2012 (English)In: Journal of Neuro-Oncology, ISSN 0167-594X, E-ISSN 1573-7373, Vol. 107, no 1, 37-49 p.Article in journal (Refereed) Published
Abstract [en]

Medulloblastoma (MB) is a WHO grade IV, invasive embryonal CNS tumor that mainly affects children. The aggressiveness and response to therapy can vary considerably between cases, and despite treatment, ~30% of patients die within 2 years from diagnosis. Furthermore, the majority of survivors suffer long-term side-effects due to severe management modalities. Several distinct morphological features have been associated with differences in biological behavior, but improved molecular-based criteria that better reflect the underlying tumor biology are in great demand. In this study, we profiled a series of 25 MB with a 32K BAC array covering 99% of the current assembly of the human genome for the identification of genetic copy number alterations possibly important in MB. Previously known aberrations as well as several novel focally amplified loci could be identified. As expected, the most frequently observed alteration was the combination of 17p loss and 17q gain, which was detected in both high- and standard-risk patients. We also defined minimal overlapping regions of aberrations, including 16 regions of gain and 18 regions of loss in various chromosomes. A few noteworthy narrow amplified loci were identified on autosomes 1 (38.89-41.97 and 84.89-90.76 Mb), 3 (27.64-28.20 and 35.80-43.50 Mb), and 8 (119.66-139.79 Mb), aberrations that were verified with an alternative platform (Illumina 610Q chips). Gene expression levels were also established for these samples using Affymetrix U133Plus2.0 arrays. Several interesting genes encompassed within the amplified regions and presenting with transcript upregulation were identified. These data contribute to the characterization of this malignant childhood brain tumor and confirm its genetic heterogeneity.

Place, publisher, year, edition, pages
2012. Vol. 107, no 1, 37-49 p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-163476DOI: 10.1007/s11060-011-0716-0ISI: 000300313100005PubMedID: 21979893OAI: oai:DiVA.org:uu-163476DiVA: diva2:464113
Available from: 2011-12-12 Created: 2011-12-12 Last updated: 2013-07-23Bibliographically approved

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Nord, HelenaPfeifer, SusanNilsson, PellePopova, SvetlanaStrömberg, BoAlafuzoff, Irina
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Medical GeneticsDepartment of Women's and Children's HealthNeurosurgeryMolecular and Morphological Pathology
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