Fig. 4.

Overview of the main clinical and molecular features in the pedHGG-RTK2A/B cohort. Epigenetically defined pedHGG-RTK2A (n = 25) and pedHGG-RTK2B (n = 7) cases are presented in columns and mutational status or clinical characteristics in rows. Molecular information was derived from DNA sequencing and DNA methylation array analyses, except for immunohistological data of ATRX expression. Fulfilled primary GC criteria on MRI (i.e., involvement of at least three contiguous cerebral lobes at diagnosis) is indicated as ‘GC at diagnosis’. Other abbreviations are as follow. CNV: copy-number variations; CNAs: copy-number alterations; CN_neutral: copy-number neutral; hom_deletion homozygous deletion; NGS: next-generation DNA sequencing; promoter_mut: promoter mutation; ATRX_IHC: ATRX expression assessed by immunohistochemistry