title: Low frequency of the p53 gene mutations in neuroblastoma.
abstract: BACKGROUND
  The p53 gene frequently is affected by point mutations, rearrangements, or deletions that contribute to the genesis or progression of a wide variety of human adult solid tumors; however, to the authors' knowledge, this gene alteration has not been analyzed in neuroblastoma.
  
  
  METHODS
  Genomic DNA samples from 20 children with neuroblastoma, including 16 patients with advanced disease, were screened for the presence of mutations in exons 5-9 of the p53 gene, where over 90% of mutations have been reported to be located in human cancer. The screening technique employed polymerase chain reaction/single-strand conformation polymorphism analysis followed by direct DNA sequencing.
  
  
  RESULTS
  Heterozygous mutations were detected in 2 of the 20 cases. A silent mutation (T to G transversion) at codon 172 and a missense mutation (G to T transversion) at codon 259 were found in patients with Stage II and Stage IV disease, respectively. Thus, p53 mutations were found to occur in neuroblastoma, but at a low frequency (2 of 20).
  
  
  CONCLUSIONS
  Our data suggest that in a minority of neuroblastomas, p53 gene mutations may play a contributing role in tumorigenesis, but other genes presumably play a major role in this tumor.
authors.affiliation: Department of Pediatrics, Osaka University Hospital, Japan.
authors.forename: G
authors.initials: G
authors.lastname: Hosoi
authors.forename: J
authors.initials: J
authors.lastname: Hara
authors.forename: T
authors.initials: T
authors.lastname: Okamura
authors.forename: Y
authors.initials: Y
authors.lastname: Osugi
authors.forename: S
authors.initials: S
authors.lastname: Ishihara
authors.forename: M
authors.initials: M
authors.lastname: Fukuzawa
authors.forename: A
authors.initials: A
authors.lastname: Okada
authors.forename: S
authors.initials: S
authors.lastname: Okada
authors.forename: A
authors.initials: A
authors.lastname: Tawa
mesh_terms: D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc; D016158:Genes, p53; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009447:Neuroblastoma / Q000235:genetics*; D017354:Point Mutation