Mutational analysis of the p16 gene in human neuroblastomas

Mol Carcinog. 1997 Mar;18(3):129-33. doi: 10.1002/(sici)1098-2744(199703)18:3<129::aid-mc1>3.0.co;2-a.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics*
  • Cyclin-Dependent Kinase Inhibitor p16
  • DNA Mutational Analysis*
  • Exons
  • Ganglioneuroma / genetics
  • Ganglioneuroma / pathology
  • Ganglioneuroma / surgery
  • Genes, Tumor Suppressor*
  • Humans
  • Infant
  • Neuroblastoma / genetics*
  • Neuroblastoma / pathology
  • Neuroblastoma / surgery
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Restriction Mapping
  • Sequence Deletion

Substances

  • Carrier Proteins
  • Cyclin-Dependent Kinase Inhibitor p16