Recurrent paediatric supratentorial extraventricular ependymoma associated with genetic mutation at exon 4 of p53
A R Ghani1, J M Abdullah, M Ghazali
1Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, Malaysia. deptneurosciencesppspusm@yahoo.com
Insights
This case report details a rare recurrent supratentorial extraventricular ependymoma in a child. Management involved surgery and radiotherapy, with genetic analysis revealing a specific p53 gene mutation.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Molecular Genetics
Background:
- Ependymomas are tumors arising from ependymal cells.
- Supratentorial extraventricular ependymomas are rare, particularly in pediatric patients.
- Recurrence necessitates aggressive treatment strategies.
Observation:
- A 4-year-old boy presented with symptoms of increased intracranial pressure and focal seizures.
- Brain imaging revealed a left supratentorial cystic lesion with mass effect.
- Histopathology confirmed WHO grade II ependymoma.
Findings:
- The patient underwent two surgical resections and cranial radiotherapy for recurrent disease.
- Molecular analysis identified a specific nucleotide substitution (G to C) in exon 4 of the p53 gene.
- No alterations were found in other analyzed exons of p53 or in the p27 gene.
Implications:
- This case highlights the challenges in managing recurrent pediatric ependymomas.
- Understanding genetic alterations like the p53 mutation may inform future therapeutic approaches.
- Further research into molecular targets is crucial for improving outcomes in pediatric brain tumors.
Abstract:
Recurrent supratentorial extraventricular ependymoma in a four-year-old Malay boy treated twice surgically in combination with cranial radiotherapy is reported. He presented with symptoms of raised intracranial pressure and a history of focal seizure. Computed tomography of the brain showed a left supratentorial extraventricular cystic lesion causing a mass effect. The tumour histology was ependymoma (WHO grade II). The clinical course, radiological characteristics and management of this tumour are discussed. Molecular genetic analysis of p53 and p27 genes revealed substitution of nucleotide G to C at location nucleotide 12139, exon 4 of gene p53. No alteration was detected at exon 5-6 and 8 of p53 gene and exon 1 and 2 of p27 gene.
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