Desmoplastic fibroma of the pediatric cranium with CTNNB1 mutation: case report and literature review.
Childs Nerv Syst
; 40(7): 2227-2233, 2024 Jul.
Article
em En
| MEDLINE
| ID: mdl-38635072
ABSTRACT
PURPOSE:
Desmoplastic fibroma (DF) is an uncommon intermediate bone tumor rarely involving the skull with unidentified pathogenesis. We report the first case of pediatric temporoparietal cranial desmoplastic fibroma (DF) with a CTNNB1 gene mutation and review the previous literature. CASE PRESENTATION A 3-year-old boy had a firm, painless mass on the right temporoparietal region for 22 months. The cranial CT scan showed isolated osteolytic destruction in the outer plate and diploe of the right temporoparietal bone. Gross total resection of the lesion and cranioplasty were performed. After that, a growing epidural hematoma was observed so another operation was performed to remove the artificial titanium plate. Postoperative pathology indicated a DF diagnosis and molecular pathology suggested a missense mutation in exon 3 of the CTNNB1 gene (c.100G > A,p.Gly34Arg).CONCLUSION:
Pediatric cranial DF is rare and easy to be misdiagnosed before operation. For cranial DF, lesion resection can be performed and perioperative management should be strengthened. Mutations in the CTNNB1 gene might be one of the molecular pathologic features of DF.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cranianas
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Fibroma Desmoplásico
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Beta Catenina
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article