PEUTZ-JEGHERS POLYPS, DYSPLASIA, AND K-RAS CODON-12 MUTATIONS

Background-Petuz-Jeghers syndrome (PJS) is a rare, autosomal dominant, polyposis syndrome, associated with an increased risk of gastrointest inal and extragastronintesinal malignancy. Occasionally dysplasia occu rs in PJS polyps. Aims-In colorectal carcinomas, mutations in codon 12 of the K-ras oncogene are common and are found at similar frequency i n precursor adenomas. Therefore, K-ras codon 12 point mutations in PJS polyps were evaluated. Materials and methods-Fifty two PJS polyps, in cluding four with dysplasia, collected from 19 patients with PJS, were analysed for mutations in the K-ras codon 12 by a mutant enriched pol ymerase chain reaction procedure, followed by allele specific oligodeo xynucleotide hybridisation. Results-A K-ras codon 12 mutation was iden tified in one colonic polyp with dysplasia. The mutation was found in the non-neoplastic epithelial cells and not in the dysplastic componen t of the polyp. Conclusions-K-ras codon 12 point mutations are very ra re in PJS polyps, by contrast with colorectal adenomas. The findings s upport precious evidence that there seems to be no intrinsic relation between K-ras codon 12 mutation and dysplasia.