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Review
. 2020 Oct 29:10:566822.
doi: 10.3389/fonc.2020.566822. eCollection 2020.

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

Roberto Carta  1 , Giada Del Baldo  1 , Evelina Miele  1 , Agnese Po  2 , Zein Mersini Besharat  3 , Francesca Nazio  1 , Giovanna Stefania Colafati  4 , Eleonora Piccirilli  5 , Emanuele Agolini  6 , Martina Rinelli  6 , Mariachiara Lodi  1 , Antonella Cacchione  1 , Andrea Carai  7 , Luigi Boccuto  8   9 , Elisabetta Ferretti  3 , Franco Locatelli  1   10 , Angela Mastronuzzi  1
Affiliations
Review

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

Roberto Carta et al. Front Oncol. .

Abstract

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.

Keywords: cancer genes; cancer predisposition; cancer syndromes; hereditary neoplastic syndromes; medulloblastoma; pediatric brain tumors.

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Figures

Figure 1
Figure 1
Correlations between cancer predisposition syndromes and MB subtypes. (A) In Gorlin syndrome both PTCH1 and SUFU mutations have been associated to MB-SHH subgroup. Vismodegib and Sonidegib are selective antagonists of the transmembrane activator Smoothened (SMO). (B) In Li-Fraumeni syndrome los of TP53 finctions results in increased risk of developing MB-SHH subtype. (C) In Turcot syndrome, twotypes have been distinguished: Type 1 genetically related to the mutationof the mismatch repair genes and Type 2 related to APC mutation that are more commonly associated with MB-WNT subtype. (D) Pathogenic germline mutations in BRCA2, PALB2, GPR161, and ELP genes have been recently associated to an increased risk of developing different MB subtypes. (E) In Rubenstein-Taybi syndrome mutations in CREEBP and EP300 genes predispose to MB Group 3 onset.
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