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Absence of p53 gene mutations in primary neuroblastomas
K Vogan1, M Bernstein, J M Leclerc
1Department of Biochemistry, McGill University, Montreal, Quebec, Canada.
Abstract:
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.
Insights
p53 gene mutations do not appear to cause neuroblastoma, a common childhood cancer. Chromosome 17 alterations in neuroblastoma likely involve other genes, not the p53 tumor suppressor gene.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Neuroblastoma is a prevalent pediatric cancer originating from the sympathetic nervous system.
- Mutations in the p53 tumor suppressor gene are frequent in various human cancers.
- Observed chromosome 17 abnormalities (trisomy 17q with 17p loss) in neuroblastoma prompted investigation into p53's role.
Purpose of the Study:
- To investigate whether mutations in the p53 gene contribute to the development and progression of neuroblastoma.
- To screen primary neuroblastoma tumors for alterations in the p53 coding sequence.
Main Methods:
- Screening of primary tumors from 38 neuroblastoma patients for p53 gene mutations.
- Utilized single-strand conformation polymorphism (SSCP) analysis to detect potential mutations.
- Nucleotide sequence analysis was performed to confirm identified sequence variations.
Main Results:
- Commonly known sequence variations, including a silent polymorphism at codon 213 and a Pro/Arg substitution at codon 72, were detected.
- No novel mutations were identified within the coding exons of the p53 gene in the studied neuroblastoma samples.
- The findings indicate that p53 mutations are not a significant factor in the etiology of neuroblastoma.
Conclusions:
- p53 gene mutations do not appear to play a direct role in the onset or progression of neuroblastoma.
- Chromosome 17 alterations in neuroblastoma likely affect genes other than the p53 locus.
- Further research should focus on other genes involved in chromosome 17 abnormalities in neuroblastoma.