Molecular genetic analysis of a suprasellar immature teratoma: Mutation of exon 4 P53 gene
- Author:
Nujaimin Udin
;
Ku Asmarina Ku Ahmad
;
Farizan Ahmad
;
Effat Omar
;
Mohd Ezanee Aziz
;
Raj Kumar
;
Jafri Malin Abdullah
- Publication Type:Case Reports
- Keywords:
Teratoma, Immature, Suprasellar, Genetic Analysis
- From:Malaysian Journal of Medical Sciences
2008;15(2):37-40
- CountryMalaysia
- Language:English
-
Abstract:
We described an intracranial immature teratoma in a 13 year old Malay boy who presented with history of chronic headache and blurring of vision. Physical findings
revealed bilateral papilloedema but no other localizing sign. A Magnetic Resonance Imaging of the brain revealed a suprasellar well defined lobulated midline
heterogenous mass which was intraoperatively described as mainly solid tumour with multiple small cystic component filled with yellowish jelly like material.
Histopathological finding confirmed the case as immature teratoma. 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. This is the first case report of
an intracranial immature teratoma with genetic mutation occuring in a Malay boy.
