Central Nervous System Embryonal Tumour With PLAGL Amplification Lacking Typical Embryonal Morphology: Diagnostic Pitfall in a Paediatric Case.

Central nervous system embryonal tumour with PLAGL amplification, a methylation-defined tumour entity, may lack typical embryonal morphology. In this paediatric case, the diagnosis was established by DNA methylation profiling and confirmed by fluorescence in situ hybridisation demonstrating PLAGL1 amplification. Recognition of this morphology-molecular discordance may help avoid diagnostic pitfalls.