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Central Nervous System Embryonal Tumour With PLAGL Amplification Lacking Typical Embryonal Morphology: Diagnostic
Ryo Okuse1,2, Sumihito Nobusawa3, Akira Kurose1
1Department of Anatomic Pathology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.
Neuropathology and Applied Neurobiology
|June 26, 2026
Abstract
None:
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.
