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

doi:10.3389/fonc.2020.566822

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era

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

Authors

Roberto Carta¹, Giada Del Baldo¹, Evelina Miele¹, Agnese Po², Zein Mersini Besharat³, Francesca Nazio¹, Giovanna Stefania Colafati⁴, Eleonora Piccirilli⁵, Emanuele Agolini⁶, Martina Rinelli⁶, Mariachiara Lodi¹, Antonella Cacchione¹, Andrea Carai⁷, Luigi Boccuto^{8

9}, Elisabetta Ferretti³, Franco Locatelli^{1

10}, Angela Mastronuzzi¹

Affiliations

¹ Department of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
² Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
³ Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
⁴ Oncological Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁵ Department of Neuroscience, Imaging and Clinical Science, University "G.d'Annunzio" of Chieti, Chieti, Italy.
⁶ Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁷ Neurosurgery Unit, Department of Neurological and Psychiatric Sciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
⁸ JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, United States.
⁹ School of Nursing, College of Behavioral, Social and Health Science, Clemson University, Clemson, SC, United States.
¹⁰ Department of Maternal, Infantile, and Urological Sciences, University of Rome La Sapienza, Rome, Italy.

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.

Publication types

Review