Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

The diagnosis of medulloblastoma likely encompasses several distinct entities, with recent evidence for the existence of at least four unique molecular subgroups that exhibit distinct genetic, transcriptional, demographic, and clinical features. Assignment of molecular subgroup through routine profi...

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Main Authors: Northcott, Paul A. (Author) , Remke, Marc (Author) , Kool, Marcel (Author) , Korshunov, Andrey (Author) , Pfister, Stefan (Author)
Format: Article (Journal)
Language:English
Published: April 2012
In: Acta neuropathologica
Year: 2012, Volume: 123, Issue: 4, Pages: 615-626
ISSN:1432-0533
DOI:10.1007/s00401-011-0899-7
Online Access:Verlag, Volltext: http://dx.doi.org/10.1007/s00401-011-0899-7
Verlag, Volltext: https://link.springer.com/article/10.1007/s00401-011-0899-7
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Author Notes:Paul A. Northcott, David J.H. Shih, Marc Remke, Yoon-Jae Cho, Marcel Kool, Cynthia Hawkins, Charles G. Eberhart, Adrian Dubuc, Toumy Guettouche, Yoslayma Cardentey, Eric Bouffet, Scott L. Pomeroy, Marco Marra, David Malkin, James T. Rutka, Andrey Korshunov, Stefan Pfister, Michael D. Taylor

MARC

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520 |a The diagnosis of medulloblastoma likely encompasses several distinct entities, with recent evidence for the existence of at least four unique molecular subgroups that exhibit distinct genetic, transcriptional, demographic, and clinical features. Assignment of molecular subgroup through routine profiling of high-quality RNA on expression microarrays is likely impractical in the clinical setting. The planning and execution of medulloblastoma clinical trials that stratify by subgroup, or which are targeted to a specific subgroup requires technologies that can be economically, rapidly, reliably, and reproducibly applied to formalin-fixed paraffin embedded (FFPE) specimens. In the current study, we have developed an assay that accurately measures the expression level of 22 medulloblastoma subgroup-specific signature genes (CodeSet) using nanoString nCounter Technology. 
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