title: Mutational analysis of the p16 gene in human neuroblastomas.
abstract: Neuroblastoma is one of the most frequent tumors in infancy. We analyzed 26 neuroblastomas, two ganglioneuromas, and a neuroblastoma metastasis for mutations and homozygous deletions of the p16 (or MTS1 or CDKN2) gene by means of the polymerase chain reaction (PCR) in combination with the single-strand conformation polymorphism (SSCP) technique and by multiplex PCR analysis. We detected mobility shifts in the SSCP gels in seven cases in the 3 half of exon 2 (named exon 2C) of the p16 gene. By PCR amplification of this particular region and SacII restriction enzyme digestion, we confirmed that those cases had a known polymorphism at codon 140 of the p16 gene. Neither mutations nor homozygous deletions were detected. Our results confirm those of Beltinger et al. (Cancer Res 55:2053-2055, 1995), which showed no p16 mutations or homozygous deletions in 18 primary neuroblastomas and nine tumor-derived cell lines. We conclude that the common pattern of p16 inactivation by homozygous deletion or mutation does not seem to be relevant to the development of neuroblastomas.
authors.affiliation: Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Cientificas, Madrid, Spain.
authors.forename: J S
authors.initials: JS
authors.lastname: Castresana
authors.forename: L
authors.initials: L
authors.lastname: Gómez
authors.forename: P
authors.initials: P
authors.lastname: García-Miguel
authors.forename: A
authors.initials: A
authors.lastname: Queizán
authors.forename: A
authors.initials: A
authors.lastname: Pestaña
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004252:DNA Mutational Analysis; D005091:Exons; D005729:Ganglioneuroma / Q000235:genetics / Q000473:pathology / Q000601:surgery; D016147:Genes, Tumor Suppressor; D006801:Humans; D007223:Infant; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16