Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors.

Two cases presented H3K27M mutation, but no DNA-methylation was available, and moreover, because one of them presented an I EGFR i amplification, we suggest the diagnosis of DMG, H3K27-altered (with H3K27M mutation). Indeed, I EGFR i amplification has not been described in DMG H3K27-mutant [8] and only six cases with concomitant H3K27M and I EGFR i alterations (including amplification) have been classified as DMG I EGFR i -altered [3]. Consequently, for our two cases presenting H3K27M mutation without verification by DNA methylation profiling and without complete I EGFR i characterization (one case presented an I EGFR i amplification), we concluded a diagnosis of DMG, H3K27-altered. [Extracted from the article]