ABSENCE OF P53 GENE-MUTATIONS IN PRIMARY NEUROBLASTOMAS

Neuroblastoma is a common childhood malignancy of the sympathetic nerv ous system. Mutations in p53, a tumor suppressor gene located on the s hort 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 i n 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 screene d for mutations within the coding exons of the p53 gene by single-stra nd conformation polymorphism analysis, and potential mutations were fu rther analyzed by nucleotide sequence analysis. Previously described s equence variations were detected in many of the tumors, including a si lent polymorphism at codon 213 (CGA to CGG) and the nontransforming Pr o to Arg substitution at codon 72 (CCC to CGC). However, no other sequ ence variations were detected within the coding portions of the p53 ge ne. This finding suggests that p53 mutations do not contribute to the etiology of neuroblastoma and that the chromosome 17 alterations obser ved in neuroblastoma involve genes which are distinct from the p53 loc us.