Article Text

Download PDFPDF
Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations
  1. Laurence Brugières1,
  2. Gaëlle Pierron2,
  3. Agnès Chompret3,
  4. Brigitte Bressac-de Paillerets4,
  5. Federico Di Rocco5,
  6. Pascale Varlet6,
  7. Alain Pierre-Kahn5,
  8. Olivier Caron3,
  9. Jacques Grill1,
  10. Olivier Delattre2
  1. 1Department of Pediatric Oncology, Institut Gustave Roussy, Villejuif, France
  2. 2Unité INSERM 830. Laboratoire de Génétique et Biologie des Cancers Section de Recherche Institut, Paris, France
  3. 3Department of Medicine, Institut Gustave Roussy, Villejuif, France
  4. 4Department of Biopathology and INSERM U946, Institut Gustave Roussy, Villejuif, France
  5. 5Department of Neurosurgery, Hôpital Necker Enfants Malades, Paris, France
  6. 6Department of Neuropathology, Sainte-Anne Hospital, UMR Inserm U894; Psychiatry and Neurosciences Center, University Descartes Paris 5, France
  1. Correspondence to L Brugieres, Department of Paediatric Oncology, Institut Gustave Roussy, 94805 Villejuif, France; brugiere{at}


Methods and results Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, seven developed medulloblastomas.

Conclusions This report highlights three features of SUFU related tumours. These are mainly medulloblastomas with extensive nodularity or typical desmoplastic/nodular medulloblastomas. These tumours mostly, if not exclusively, appear during the first 3 years of life. The penetrance of the mutation is incomplete.

  • medulloblastoma
  • desmoplastic medulloblastoma
  • familial medulloblastoma
  • SUFU
  • childhood
  • genetics
  • neuro oncology
  • Cancer: CNS
  • paediatric oncology

Statistics from


  • Funding Other funders: Ligue Nationale Contre le Cancer, Paris, France.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.