Central Nervous System Embryonal Tumour With PLAGL Amplification Lacking Typical Embryonal Morphology: Diagnostic Pitfall in a Paediatric Case
Ryo Okuse, Sumihito Nobusawa, Akira Kurose, Akihisa Kamataki, Yuichi Sato, Ryo Sugimoto, Hiromichi Suzuki, Naoki Yanagawa, Takaaki BeppuSummary
Central nervous system embryonal tumour with PLAGL amplification (ET‐PLAGL) is a methylation‐defined tumour characterised by
PLAGL1
or
PLAGL2
amplification.
ET‐PLAGL may not be readily recognised on histological assessment and requires molecular profiling for accurate classification.
PLAGL1 protein expression detected by immunohistochemistry and
PLAGL1
gene amplification confirmed by fluorescence in situ hybridisation may serve as adjunctive findings in the diagnosis of ET‐PLAGL.
This case highlights discordance between histological appearance and molecular classification, representing a potential diagnostic pitfall.