Analysis of p53 tumor suppressor gene and MDM2 gene in solid tumors in childhood.

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The p53 gene frequently is affected by point mutations or deletions that contribute to the onset and progression of a wide variety of human adult solid tumors. Neuroblastoma is a common childhood malignancy of the sympathetic nervous system. However, to our knowledge, this gene alteration has been little analyzed in neuroblastoma.In this project, we prepared genomic DNA samples which were extracted from paraffin embedded blocks of 36 primary neuroblastomas. We screened for the presence of mutations in exons 5-8 of the p53 gene where over 90% of mutations have been reported to be located in human cancer. We also examined mutations of the K-ras and N-ras gene which are involved in a number of neoplasms. The screening technique employed polymerase chain reaction / single-strand conformation polymorphism analysis (PCR-SSCP) and potential mutations were further confirmed by a sequence analysis.In consequence, no mutations were detected within the exon 5-8 of the p53 gene and exon 1-2 of the K-ras and N-ras gene, regardless of the age, sex clinical staging and histological classification. Our data suggests that p53 and ras mutations do not contribute to the etiology of neuroblastomas, but other genes presumably play a major role in this tumor.Note ; Analysis of MDM2 gene amplification was so difficult due to severe fragmentation of DNA that we could not accomplish it.