Glioblastoma multiforme in a child with tuberous sclerosis complex

Aglaia Vignoli, Elena Lesma, Rosa Maria Alfano, Angela Peron, Giulia Federica Scornavacca, Maura Massimino, Elisabetta Schiavello, Silvia Ancona, Michele Cerati, Gaetano Bulfamante, Alfredo Gorio, Maria Paola Canevini

Research output: Contribution to journalArticlepeer-review


Tuberous Sclerosis Complex (TSC) is characterized by the presence of benign tumors in the brain, kidneys, heart, eyes, lungs, and skin. The typical brain lesions are cortical tubers, subependimal nodules and subependymal giant-cell astrocytomas. The occurrence of malignant astrocytomas such as glioblastoma is rare. We report on a child with a clinical diagnosis of TSC and a rapidly evolving glioblastoma multiforme. Genetic analysis identified a de novo mutation in TSC2. Molecular characterization of the tumor was performed and discussed, as well as a review of the literature where cases of TSC and glioblastoma multiforme are described. Although the co-occurrence of TSC and glioblastoma multiforme seems to be rare, this possible association should be kept in mind, and proper clinical and radiological follow up should be recommended in these patients.

Original languageEnglish
Pages (from-to)2388-2393
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
Publication statusPublished - Oct 1 2015


  • Children
  • Follow-up MR
  • Glioblastoma multiforme
  • TSC
  • Tuberous Sclerosis Complex
  • Tumors

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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