title: Concomitant p53 mutation and MYCN amplification in neuroblastoma.
abstract: The MYCN oncogene is amplified in 20% of childhood neuroblastoma and is associated independently with poor prognosis. Alteration of the p53 tumor supressor gene, in contrast, occurs infrequently in these tumors. In this report, we described a 3-year-old girl with stage IV neuroblastoma. Molecular analysis revealed, both MYCN gene amplification and a point mutation of the p53 tumor supressor gene. To our knowledge, this is the first reported case of neuroblastoma with genetic alterations of both these genes.
authors.affiliation: Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Manhani
authors.forename: L M
authors.initials: LM
authors.lastname: Cristofani
authors.forename: V
authors.initials: V
authors.lastname: Odone Filho
authors.forename: I
authors.initials: I
authors.lastname: Bendit
mesh_terms: D015139:Blotting, Southern; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000032:analysis; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc / Q000235:genetics*; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D011379:Prognosis; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm