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Medulloblastoma

Nature Reviews Disease Primers volume 5, Article number: 11 (2019) Cite this article

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Abstract

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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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.

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Reviewer information

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

Authors and Affiliations

  1. Department of Developmental Neurobiology, Neurobiology and Brain Tumor Program, St. Jude Children’s Research Hospital, Memphis, TN, USA

    Paul A. Northcott

  2. Department of Oncology, Neurobiology and Brain Tumor Program, St. Jude Children’s Research Hospital, Memphis, TN, USA

    Giles W. Robinson & Amar Gajjar

  3. Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany

    Christian P. Kratz

  4. Neurosciences and Mental Health, Hospital for Sick Children, Toronto, Ontario, Canada

    Donald J. Mabbott

  5. Department of Neurology, Boston Children’s Hospital, Boston, MA, USA

    Scott L. Pomeroy

  6. Department of Neurology, Harvard Medical School, Boston, MA, USA

    Scott L. Pomeroy

  7. Eli and Edythe Broad Institute of MIT and Harvard, Cambridge, MA, USA

    Scott L. Pomeroy

  8. Wolfson Childhood Cancer Research Centre, Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK

    Steven C. Clifford

  9. Department of Paediatric Haematology and Oncology, University Medical Centre Hamburg–Eppendorf, Hamburg, Germany

    Stefan Rutkowski

  10. Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN, USA

    David W. Ellison

  11. Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

    David Malkin

  12. Developmental and Stem Cell Biology Program, The Arthur and Sonia Labatt Brain Tumour Research Centre, Division of Neurosurgery, Departments of Surgery, Laboratory Medicine and Pathobiology, and of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada

    Michael D. Taylor

  13. Hopp Children’s Cancer Center Heidelberg (KiTZ), Heidelberg, Germany

    Stefan M. Pfister

  14. Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, Germany

    Stefan M. Pfister

  15. Department of Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany

    Stefan M. Pfister

Authors
  1. Paul A. Northcott
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  2. Giles W. Robinson
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  3. Christian P. Kratz
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  4. Donald J. Mabbott
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  5. Scott L. Pomeroy
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  6. Steven C. Clifford
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  7. Stefan Rutkowski
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  8. David W. Ellison
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  9. David Malkin
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  10. Michael D. Taylor
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  11. Amar Gajjar
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  12. Stefan M. Pfister
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Contributions

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.).

Corresponding author

Correspondence to Stefan M. Pfister.

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All authors declare no competing interests.

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Northcott, P.A., Robinson, G.W., Kratz, C.P. et al. Medulloblastoma. Nat Rev Dis Primers 5, 11 (2019). https://doi.org/10.1038/s41572-019-0063-6

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