MUTATIONAL ANALYSIS OF THE P16 GENE IN HUMAN NEUROBLASTOMAS

Neuroblastoma is one of the most frequent tumors in infancy. We analyz ed 26 neuroblastomas, two ganglioneuromas, and a neuroblastoma metasta sis for mutations and homozygous deletions of the p16 (or MTS1 or CDKN 2) 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 ge ls 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 Sacll restric tion enzyme digestion, we confirmed that those cases had a known polym orphism 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 ho mozygous deletions in 18 primary neuroblastomas and nine tumor-derived cell lines. We conclude that the common pattern of p16 inactivation b y homozygous deletion or mutation does not seem to be relevant to the development of neuroblastomas. (C) 1997 Wiley-Liss, Inc.