Medulloblastomics: The End of the Beginning

By P. Northcott, David T. W. Jones, M. Kool, G. Robinson, Richard J. Gilbertson, Yoon-Jae Cho, S. Pomeroy, A. Korshunov, P. Lichter, Michael D. Taylor and 1 more. Nature Reviews. Cancer, 2012

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The division of medulloblastoma into different subgroups by microarray expression profiling has dramatically changed our perspective of this malignant childhood brain tumour. Now, the availability of next-generation sequencing and complementary high-density genomic technologies has unmasked novel driver mutations in each medulloblastoma subgroup. The implications of these findings for the management of patients are readily apparent, pinpointing previously unappreciated diagnostic and therapeutic targets. In this Review, we summarize the 'explosion' of data emerging from the application of modern genomics to medulloblastoma, and in particular the recurrent targets of mutation in medulloblastoma subgroups. These data are currently making their way into clinical trials as we seek to integrate conventional and molecularly targeted therapies.

Subfields: Cancer Research, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/2f12639bbff4854f80ccabf645c5d86c8e29087b

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Citations in the corpus

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition (2014, methodology): “Interestingly, mutations affecting the SWI-SNF complex, also mainly found in the WNT-MBs in children (Jones et al., 2012; Northcott et al., 2012a; Pugh et al., 2012; Robinson et al., 2012), were also frequently seen in adult SHH-MBs.”
The whole-genome landscape of medulloblastoma subtypes (2017, positive): “The latter has direct clinical ramifications given that positivity for either of these two features is now routinely used to clinically assign patients to this subgroup, an approach that will currently miss approxi mately 10–15% of bona fide patients with WNT MB. Additional WNT subgroup-associated m”
Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups. (2015, background): “A robust and uniform (epi)genetic classification of ependymal tumors as presented herein may guide researchers, neuropathologists, and clinicians to a better understanding of the heterogeneity of this disease, analogous to (epi)genetic subgroups of medulloblastoma (Kool et al., 2012; Northcott et al”
The Molecular Signatures Database (MSigDB) hallmark gene set collection (2015, neutral): “Analysis of Hedgehog Signaling in Medulloblastoma Medulloblastomas comprise a diverse group of malignant tumors of the cerebellum and are themost common pediatric brain cancers (Northcott et al., 2012).”