title: p53 gene mutation in cerebral primitive neuroectodermal tumor in Taiwan.
abstract: p53 mutation has been rarely reported in cerebral primitive neuroectodermal tumors (PNET). To determine the significance of p53 mutations in the development of cerebral PNET, we studied cerebral PNET samples from 14 patients, 8 females and 6 males with a mean age of 38 years (range 10 months to 77 years) who had total or subtotal surgical resection. Histological typing of PNET with neuronal (N) and non-neuronal (NN) differentiation groups revealed 8 and 6 cases, respectively. Six (43%) of the 14 patients had p53 mutation. The p53(+) and p53(-) groups had an age range of 19-77 with a mean of 49 years and 10 months to 57 years with a mean of 30 years, respectively. p53 expression between the PNET-N and PNET-NN groups was 5 of 8 (62.5%) and 1 of 6 (16.7%), respectively. The mutations contained 3 transitions, 2 transversions and 1 frameshift; none of them occurred at the site of 'hot-spot' residues (codons 175, 248, 273). The results suggest that: (1) p53 mutation in cerebral PNET tends to show a higher incidence of neuronal differentiation and occurs in the older age group in Taiwan, (2) there was no difference in survival time between the PNET-N and PNET-NN groups (7 months and 6 months) (P = 0.54), and between p53(+) and p53(-) groups (6 months and 7 months) (P = 0.57), and (3) PNET may be an entity of a heterogenous group of tumors with different genetic mechanisms controlling their trends of differential lineage. Further studies are needed to determine the significance of p53 mutations in PNET development, especially the role of carcinogens in the genesis of PNET in Taiwan.
authors.affiliation: Department of Pathology, Chang-Gung Memorial Hospital, Taipei, Taiwan.
authors.forename: Y S
authors.initials: YS
authors.lastname: Ho
authors.forename: L L
authors.initials: LL
authors.lastname: Hsieh
authors.forename: J S
authors.initials: JS
authors.lastname: Chen
authors.forename: C N
authors.initials: CN
authors.lastname: Chang
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: L L
authors.initials: LL
authors.lastname: Chiu
authors.forename: T Y
authors.initials: TY
authors.lastname: Chin
authors.forename: S C
authors.initials: SC
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D001932:Brain Neoplasms / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons; D005260:Female; D016158:Genes, p53; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018242:Neuroectodermal Tumors, Primitive / Q000453:epidemiology / Q000235:genetics*; D016612:Paraffin Embedding; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013624:Taiwan / Q000453:epidemiology
chemical_list: D004273:DNA, Neoplasm