Central nervous system embryonal tumor with PLAGL1 amplification: a case report of a novel entity focusing on imaging findings.
Childs Nerv Syst
; 40(8): 2603-2607, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-38642111
ABSTRACT
The embryonal central nervous system (CNS) tumor with PLAGL1 (pleomorphic adenoma gene-like) amplification is a novel type of pediatric neoplasm with a distinct methylation profile, described for the first time in 2022. It may be located anywhere in the neuroaxis and, as its name implies, it is driven by the amplification and overexpression of one of the PLAG family genes. Although the associated clinical, immunohistopathological, and molecular characteristics are well characterized in the seminal report of this entity, data on the radiological features is still lacking. Here, we present a case report of a 4-year-old girl with a biopsy-proven PLAGL1-amplified brainstem tumor and provide a detailed description of the corresponding conventional neuroimaging characteristics, aiming to better delineate this entity and to increase the awareness of this pathology in the radiological community.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Transcription Factors
Limits:
Child, preschool
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Female
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Humans
Language:
En
Journal:
Childs Nerv Syst
/
Childs nerv. syst
/
Childs nervous system
Journal subject:
NEUROLOGIA
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PEDIATRIA
Year:
2024
Document type:
Article
Affiliation country:
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