Angela Mastronuzzi: Gliomatosis cerebri in children
Angela Mastronuzzi shared on LinkedIn a recent paper by Gunther Nussbaumer et al. titled “Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile” published in Society for NeuroOncology.
Authors: Gunther Nussbaumer, Martin Benesch, Yura Grabovska, Alan Mackay, David Castel, Jacques Grill, Marta M Alonso, Manila Antonelli, Simon Bailey, Angela Mastronuzzi Joshua N. Baugh et al.
“Gliomatosis cerebri in children: A poor prognostic phenotype of diffuse gliomas with a distinct molecular profile published by Oxford University Press on behalf of the Society for Neuro-Oncology.
The term gliomatosis cerebri (GC), a radiology-defined highly infiltrating diffuse glioma, has been abandoned since molecular GC-associated features could not be established.
Methods: We conducted a multinational retrospective study of 104 children and adolescents with GC providing comprehensive clinical and (epi-)genetic characterization.
Contrary to previous studies, our representative pediatric GC study provides evidence that GC has a strong predilection to arise on the background of specific molecular features (especially pedHGG_ RTK2, pedHGG_A/B, EGFR and BCOR mutations, chromosome 6 rearrangements).
Key Points:
- The presence of gliomatosis cerebri (GC) phenotype may be considered as an independent dismal prognostic factor in hemispheric pediatric-type diffuse gliomas.
- The methylome-based subtypes of pediatric-type diffuse high-grade glioma (pedHGG)_RTK2A/B and (provisional) pedHGG_A/B were significantly associated with GC.
- EGFR and BCOR alterations and rearrangements of chromosome 6 were the most common genetic features in pediatric GC.”
Source: Angela Mastronuzzi/LinkedIn
Angela Mastronuzzi is a pediatric hematologist-oncologist and the Head of the Neuro-Oncology Unit at Bambino Gesù Children’s Hospital (Italy).
She is also a professor at the UniCamillus International Medical University, and a Board Member of AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica). Her main fields of interest are CNS tumors and innovative therapies.
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