Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor

Romina Moavero, Valentina Folgiero, Andrea Carai, Evelina Miele, Elisabetta Ferretti, Agnese Po, Francesca Diomedi Camassei, Francesca Romana Lepri, Federico Vigevano, Paolo Curatolo, Massimiliano Valeriani, Giovanna S. Colafati, Franco Locatelli, Assunta Tornesello, Angela Mastronuzzi

Research output: Contribution to journalArticle

Abstract

Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB). Considering the high risk of treatment-induced malignancies, a tailored therapy, omitting radiation, was given. Based on the evidence of mammalian target of rapamycin mTORC, mTOR Complex; RAS, Rat sarcoma; RAF, rapidly accelerated fibrosarcoma (mTOR) pathway activation in the tumor, targeted therapy was applied resulting in complete remission of disease. Although the PI3K/AKT/mTOR signaling pathway plays a role in MB, we did not find TSC1/TSC2 (TSC, tuberous sclerosis complex) mutation in our patient. We speculate that a different pathway resulting in mTOR activation is the basis of both TSC and MB in this child; H&E, haematoxilin and eosin; Gd, gadolinium.

Original languageEnglish
Pages (from-to)719-722
Number of pages4
JournalPediatric Blood and Cancer
Volume63
Issue number4
DOIs
Publication statusPublished - Apr 1 2016

Keywords

  • Medulloblastoma
  • MTOR
  • TSC1/2

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

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