Pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome.

The article discusses two cases of pediatric high-grade gliomas with concomitant RB1 and SETD2 alterations and Li-Fraumeni syndrome. The tumors were found in an 11-year-old girl and a 7-year-old boy, both presenting with supratentorial solid and cystic masses. The tumors exhibited intense contrast enhancement, intermediate diffusion restriction, and high mitotic indexes, with genetic analyses revealing mutations in RB1, SETD2, and TP53 genes. These cases demonstrate atypical features compared to classic forms of pediatric high-grade gliomas and suggest potential novel groups of gliomas within this context. [Extracted from the article]