Novel p53 mutation in a malignant tumor secreting vasoactive intestinal peptide.

Abstract

To assess involvement of p53 mutations in development of pancreatic endocrine tumors. Survey of sporadic pancreatic endocrine tumors. Hospital referral centers, mainly in the Los Angeles, Calif, area. We obtained fresh surgical specimens from 25 patients (convenience sample) with no family history of endocrine tumors and no evidence of multiple endocrine neoplasia 1 or von Hippel-Lindau disease. Preoperative tests included serum peptide analysis. DNA was prepared from tumor specimens. We screened exons 5 through 8 of the p53 gene using single-strand conformation polymorphism analysis, followed by DNA sequencing when a variant was detected. A three-base deletion mutation (codon 239) was found in one malignant tumor secreting vasoactive intestinal peptide. p53 appears to have a limited role in development of pancreatic endocrine tumors. However, evidence from one of our patients suggests it may be involved in tumor progression in uncommon cases.