Molecular genetic analysis of anaplastic pleomorphic xanthoastrocytoma.
A case of pleomorphic xanthoastrocytoma in a 10-year-old Malay boy is reported. The patient presented with headache and epilepsy. On computed tomography, a ring-enhancing low-density lesion was observed in the left fronto-temporal area. During surgery, a cystic tumour containing serous fluid was found and almost totally removed. Histologically, the tumour exhibited marked pleomorphism of oval and spindle-shaped cells intermixed with uni- and multinucleated giant cells, and xanthomatous cells with foamy cytoplasm. The tumour displayed pericellular reticulin and periodic acid-Schiff positive granules. Focally, six mitotic characters per 10 high-power fields were seen, and necrosis was confined only to the inner lining of the cyst. Mutational analysis showed that a frameshift mutation (a 4-bp deletion) in the p53 gene had occurred in codons 273 and 274 of exon 8. No mutation was detected in the p16 gene. No allelic loss and/or loss of heterozygosity were observed on chromosome 10 using microsatellite marker D105532. The patient was treated with postoperative radiotherapy because of histological anaplasia and the presence of residual tumour. The patient showed marked neurological recovery after a follow-up period of 2 years.
Department of Neuroscience, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Noor Azam
NA
Nasuha
Abd Hamid
AH
Daud
Mazira Mohamad
MM
Ghazali
Abdul Aziz Mohamed
AA
Yusoff
Norafiza
N
Zainuddin
Jafri Malin
JM
Abdullah
Samarenda Singh
SS
Mutum
Biswa Mohan
BM
Biswal
Abdul Rahman Mohd
AR
Ariff
Sarina
S
Sulong
Mohd Nizam
MN
Isa
D001254:Astrocytoma / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation; D005625:Frontal Lobe; D006801:Humans; D008297:Male; D008967:Molecular Biology; D018807:Polymorphism, Single-Stranded Conformational