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Medulloblastoma (MB) comprises a biologically heterogeneous group of embryonal tumours of the cerebellum. Four subgroups of MB have been described (WNT, sonic hedgehog (SHH), Group 3 and Group 4), each of which is associated with different genetic alterations, age at onset and prognosis. These subgroups have broadly been incorporated into the WHO classification of central nervous system tumours but still need to be accounted for to appropriately tailor disease risk to therapy intensity and to target therapy to disease biology. In this Primer, the epidemiology (including MB predisposition), molecular pathogenesis and integrative diagnosis taking histomorphology, molecular genetics and imaging into account are reviewed. In addition, management strategies, which encompass surgical resection of the tumour, cranio-spinal irradiation and chemotherapy, are discussed, together with the possibility of focusing more on disease biology and robust molecularly driven patient stratification in future clinical trials.

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Nature Reviews Disease Primers thanks C. Dufour, E. Ferretti, L. Gandola, T. MacDonald, I. Slavc, and the other anonymous reviewer(s), for their contribution to the peer review of this work.

Author information

Introduction (P.A.N. and S.M.P.); Epidemiology (D.M. and C.P.K.); Mechanisms/pathophysiology (P.A.N., S.L.P., M.D.T., S.C.C. and S.M.P.); Diagnosis, screening and prevention (D.W.E., S.C.C., M.D.T. and S.M.P.); Management (G.W.R., S.R., M.D.T. and A.G.); Quality of life (D.J.M., G.W.R., S.R. and A.G.); Outlook (S.M.P. and P.A.N.); Overview of Primer (S.M.P.).

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All authors declare no competing interests.

Correspondence to Stefan M. Pfister.

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Fig. 1: Location of MB.
Fig. 2: MB predisposition.
Fig. 3: Histone-modifying genes and epigenetic alterations in MB.
Fig. 4: WNT subgroup.
Fig. 5: SHH subgroup.
Fig. 6: Group 3.
Fig. 7: Group 4.
Fig. 8: MRI of MB.
Fig. 9: Histopathology.
Fig. 10: Current molecular risk-adapted management algorithm.