title: Recurrent paediatric supratentorial extraventricular ependymoma associated with genetic mutation at exon 4 of p53 gene.
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.
authors.affiliation: Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kota Bharu, Malaysia. deptneurosciencesppspusm@yahoo.com
authors.forename: A R
authors.initials: AR
authors.lastname: Ghani
authors.forename: J M
authors.initials: JM
authors.lastname: Abdullah
authors.forename: M
authors.initials: M
authors.lastname: Ghazali
authors.forename: F
authors.initials: F
authors.lastname: Ahmad
authors.forename: K A
authors.initials: KA
authors.lastname: Ahmad
authors.forename: M
authors.initials: M
authors.lastname: Madhavan
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002845:Chromatography / Q000379:methods; D050760:Cyclin-Dependent Kinase Inhibitor p27 / Q000235:genetics; D004806:Ependymoma / Q000235:genetics* / Q000532:radiotherapy*; D005091:Exons; D016158:Genes, p53; D006801:Humans; D008297:Male; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D050760:Cyclin-Dependent Kinase Inhibitor p27