Medulloblastoma genomics in the modern molecular era.

Published on May 1, 2020in Brain Pathology6.352
· DOI :10.1111/BPA.12804
Rahul Kumar1
Estimated H-index: 1
(St. Jude Children's Research Hospital),
Anthony P. Y. Liu4
Estimated H-index: 4
(St. Jude Children's Research Hospital),
Paul A. Northcott63
Estimated H-index: 63
(St. Jude Children's Research Hospital)
Medulloblastoma (MB) represents a spectrum of biologically and clinically distinct entities. Initially described histopathologically as a small, round blue cell tumor arising in the cerebellum, MB has emerged as a paradigm for molecular classification in cancer. Recent advances in genomic, transcriptomic and epigenomic profiling of MB have further refined molecular classification and complemented conventional histopathological diagnosis. Herein, we review the main clinical and molecular features of the four consensus subgroups of MB (WNT, SHH, Group 3 and Group 4). We also highlight hereditary predisposition syndromes associated with increased risk of MB. Finally, we explore advances in the classification of the consensus molecular groups while also presenting cutting-edge frontiers in identifying intratumoral heterogeneity and cellular origins of MB.
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