A very rare cancer in Down syndrome: Medulloblastoma. Epidemiological data from 13 countries

Daniel Satgé, Charles A. Stiller, Stefan Rutkowski, André O. Von Bueren, Brigitte Lacour, Danièle Sommelet, Motoi Nishi, Maura Massimino, Maria Luisa Garré, Florencia Moreno, Henrik Hasle, Zsuzsanna Jakab, Mark Greenberg, Nicolas Von Der Weid, Claudia Kuehni, Oscar Zurriaga, Maria Luisa Vicente, Rafael Peris-Bonet, Martin Benesch, Michel VekemansSheena G. Sullivan, Christian Rickert

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Persons with Down syndrome (DS) uniquely have an increased frequency of leukemias but a decreased total frequency of solid tumors. The distribution and frequency of specific types of brain tumors have never been studied in DS. We evaluated the frequency of primary neural cell embryonal tumors and gliomas in a large international data set. The observed number of children with DS having a medulloblastoma, central nervous system primitive neuroectodermal tumor (CNS-PNET) or glial tumor was compared to the expected number. Data were collected from cancer registries or brain tumor registries in 13 countries of Europe, America, Asia and Oceania. The number of DS children with each category of tumor was treated as a Poisson variable with mean equal to 0.000884 times the total number of registrations in that category. Among 8,043 neural cell embryonal tumors (6,882 medulloblastomas and 1,161 CNS-PNETs), only one patient with medulloblastoma had DS, while 7.11 children in total and 6.08 with medulloblastoma were expected to have DS. (p 0.016 and 0.0066 respectively). Among 13,797 children with glioma, 10 had DS, whereas 12.2 were expected. Children with DS appear to be specifically protected against primary neural cell embryonal tumors of the CNS, whereas gliomas occur at the same frequency as in the general population. A similar protection against neuroblastoma, the principal extracranial neural cell embryonal tumor, has been observed in children with DS. Additional genetic material on the supernumerary chromosome 21 may protect against embryonal neural cell tumor development.

Original languageEnglish
Pages (from-to)107-114
Number of pages8
JournalJournal of Neuro-Oncology
Issue number1
Publication statusPublished - Mar 2013
Externally publishedYes


  • Brain tumor
  • Down syndrome
  • Glioma
  • Medulloblastoma
  • Natural protection against cancer
  • Primitive neurectodermal tumor

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