Mutational analysis of the p16 gene in human neuroblastomas

✍ Scribed by Javier S. Castresana; Lourdes Gómez; Purificación García-Miguel; Antonio Queizán; Angel Pestaña

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 185 KB
• Volume: 18
• Category: Article
• ISSN: 0899-1987
• DOI: 10.1002/(sici)1098-2744(199703)18:3<129::aid-mc1>3.0.co;2-a

✦ Synopsis

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.