Angela Mastronuzzi, Head of Neuro-Oncology Unit at Bambino Gesù Children’s Hospital, President of AIEOP, shared on LinkedIn:
”Happy to share our study just published with HGG
Advances by Cell Press:
‘Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study’
The relationship between pediatric and adolescent/ young adult (AYA) patients with high-grade gliomas (pediatric high-grade gliomas [pHGGs]) and cancer predisposition syndromes (CPSs) remains insufficiently explored, despite the increasing use of massive parallel sequencing in the diagnostic setting.
We retrospectively analyzed sequencing data from 95 pediatric patients diagnosed with HGGs to investigate the presence of germline variants associated with cancer risk.
The collected data revealed that 18.9% of patients had P/ LP variants; notably, among the 11.6% of patients carrying P/LP variants, there were variants in genes known to be associated with the development of central nervous system (CNS) tumors in pediatric and AYA patients, a rate higher than the 10% incidence typically reported in the literature for pediatric CNS tumors.
This finding underscores the value of our comprehensive analysis for germline variants in HGG, suggesting a greater prevalence of CPS in these patients than previously reported. Funding for this work was provided by AIRC – Foundation for Cancer Research NGO.
We thank Fondazione I| Coraggio Dei Bambini and ERN GENTURIS for their support. We also thank all the families and patients who participated in the study.”
Title: Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study
Authors: Selene Cipri, Giada Del Baldo, Emanuele Agolini, Marialetizia Motta, Cecilia Mancini, Claudio Montante, Veronica Capelli, Antonella Cacchione, Mariachiara Lodi, Maria A. De Ioris, Sabina Barresi, Isabella Giovannoni, Sabrina Rossi, Evelina Miele, Diana Ferro, Alberto E. Tozzi, Angela Gallo, Maria Vinci, Andrea Carai, Rita Alaggio, Antonio Novelli, Marco Tartaglia, Luigi Boccuto, Giovanna Stefania Colafati, Franco Locatelli, Angela Mastronuzzi
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