Absence of p53 gene mutations in primary neuroblastomas.

Neuroblastoma is a common childhood malignancy of the sympathetic nervous system. Mutations in p53, a tumor suppressor gene located on the short arm of chromosome 17, are one of the most common genetic lesions in human cancers. The evidence for trisomies of 17q with loss of 17p in some cases of neuroblastoma led us to consider whether p53 mutations might contribute to the onset and progression of this malignancy. In this study, primary tumors from 38 neuroblastoma patients were screened for mutations within the coding exons of the p53 gene by single-strand conformation polymorphism analysis, and potential mutations were further analyzed by nucleotide sequence analysis. Previously described sequence variations were detected in many of the tumors, including a silent polymorphism at codon 213 (CGA to CGG) and the nontransforming Pro to Arg substitution at codon 72 (CCC to CGC). However, no other sequence variations were detected within the coding portions of the p53 gene. This finding suggests that p53 mutations do not contribute to the etiology of neuroblastoma and that the chromosome 17 alterations observed in neuroblastoma involve genes which are distinct from the p53 locus.