Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

Roberto Carta, Giada Del Baldo, Evelina Miele, Agnese Po, Zein Mersini Besharat, Francesca Nazio, Giovanna Stefania Colafati, Eleonora Piccirilli, Emanuele Agolini, Martina Rinelli, Mariachiara Lodi, Antonella Cacchione, Andrea Carai, Luigi Boccuto, Elisabetta Ferretti, Franco Locatelli, Angela Mastronuzzi

Research output: Contribution to journalReview articlepeer-review


Medulloblastoma is the most common malignant brain tumor in children. In addition to sporadic cases, medulloblastoma may occur in association with cancer predisposition syndromes. This review aims to provide a complete description of inherited cancer syndromes associated with medulloblastoma. We examine their epidemiological, clinical, genetic, and diagnostic features and therapeutic approaches, including their correlation with medulloblastoma. Furthermore, according to the most recent molecular advances, we describe the association between the various molecular subgroups of medulloblastoma and each cancer predisposition syndrome. Knowledge of the aforementioned conditions can guide pediatric oncologists in performing adequate cancer surveillance. This will allow clinicians to promptly diagnose and treat medulloblastoma in syndromic children, forming a team with all specialists necessary for the correct management of the other various manifestations/symptoms related to the inherited cancer syndromes.

Original languageEnglish
Article number566822
JournalFrontiers in Oncology
Publication statusPublished - Oct 29 2020


  • cancer genes
  • cancer predisposition
  • cancer syndromes
  • hereditary neoplastic syndromes
  • medulloblastoma
  • pediatric brain tumors

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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