Authors
Tanvi Sharma, Edward C Schwalbe, Daniel Williamson, Martin Sill, Volker Hovestadt, Martin Mynarek, Stefan Rutkowski, Giles W Robinson, Amar Gajjar, Florence Cavalli, Vijay Ramaswamy, Michael D Taylor, Janet C Lindsey, Rebecca M Hill, Natalie Jäger, Andrey Korshunov, Debbie Hicks, Simon Bailey, Marcel Kool, Lukas Chavez, Paul A Northcott, Stefan M Pfister, Steven C Clifford
Publication date
2019/8/1
Journal
Acta neuropathologica
Volume
138
Pages
309-326
Publisher
Springer Berlin Heidelberg
Description
In 2012, an international consensus paper reported that medulloblastoma comprises four molecular subgroups (WNT, SHH, Group 3, and Group 4), each associated with distinct genomic features and clinical behavior. Independently, multiple recent reports have defined further intra-subgroup heterogeneity in the form of biologically and clinically relevant subtypes. However, owing to differences in patient cohorts and analytical methods, estimates of subtype number and definition have been inconsistent, especially within Group 3 and Group 4. Herein, we aimed to reconcile the definition of Group 3/Group 4 MB subtypes through the analysis of a series of 1501 medulloblastomas with DNA-methylation profiling data, including 852 with matched transcriptome data. Using multiple complementary bioinformatic approaches, we compared the concordance of subtype calls between published cohorts and analytical …
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