Epigenetic analysis of the low- and high-grade tumor component in a biphasic SMARCB1/INI1-deficient brain tumor (CNS LGDIT-INI1/ ATRT-MYC).

The newly proposed entity CNS LGDIT-INI1 represents a low-grade tumor composed of inconspicuous SMARCB1-deficient tumor cells diffusely infiltrating the brain. Progression of CNS LGDIT-INI1 to ATRT(-MYC) has been reported. We published the first case report on a child harboring CNS LGDIT-INI1, which also featured a high-grade ATRT component. Moreover, we present the results of extensive spatial molecular profiling of this tumor. We subjected both the low- and the high-grade tumor areas to global DNA methylation analysis (850K).