Francesca Gianno, Isabella Giovannoni, Barbara Cafferata, Francesca Diomedi-Camassei, Simone Minasi, Sabina Barresi, Francesca Romana Buttarelli, Viola Alesi, Antonello Cardoni, Manila Antonelli, Chiara Puggioni, Giovanna Stefania Colafati, Andrea Carai, Maria Vinci, Angela Mastronuzzi, Evelina Miele, Rita Alaggio, Felice Giangaspero, Sabrina Rossi
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Abstract
As a relevant element of novelty, the fifth CNS WHO Classification highlights the distinctive pathobiology underlying gliomas arising primarily in children by recognizing for the first time the families of paediatric-type diffuse gliomas, both high-grade and low-grade. This review will focus on the family of paediatric-type diffuse high-grade gliomas, which includes four tumour types: 1) Diffuse midline glioma H3 K27-altered; 2) Diffuse hemispheric glioma H3 G34-mutant; 3) Diffuse paediatric-type high-grade glioma H3-wildtype and IDH-wildtype; and 4) Infant-type hemispheric glioma. The essential and desirable diagnostic criteria as well as the entities entering in the differential will be discussed for each tumour type. A special focus will be given on the issues encountered in the daily practice, especially regarding the diagnosis of the diffuse paediatric-type high-grade glioma H3-wildtype and IDH-wildtype. The advantages and the limits of the multiple molecular tests which may be utilised to define the entities of this tumour family will be evaluated in each diagnostic context.
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