Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations.

Entius MM, Westerman AM, Giardiello FM, van Velthuysen ML, Polak MM, Slebos RJ, Wilson JH, Hamilton SR, Offerhaus GJ
Gut. 1997 41 (3): 320-2

PMID: 9378385 · PMCID: PMC1891488 · DOI:10.1136/gut.41.3.320

BACKGROUND - Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant, polyposis syndrome, associated with an increased risk of gastrointestinal and extragastrointestinal malignancy. Occasionally dysplasia occurs in PJS polyps.

AIMS - In colorectal carcinomas, mutations in codon 12 of the K-ras oncogene are common and are found at similar frequency in precursor adenomas. Therefore, K-ras codon 12 point mutations in PJS polyps, were evaluated.

MATERIALS AND METHODS - Fifty two PJS polyps, including four with dysplasia, collected from 19 patients with PJS, were analysed for mutations in the K-ras codon 12 by a mutant enriched polymerase chain reaction procedure, followed by allele specific oligodeoxynucleotide hybridisation.

RESULTS - A K-ras codon 12 mutation was identified, in one colonic polyp with dysplasia. The mutation was found in the non-neoplasmic epithelial cells and not in the dysplastic component of the polyp.

CONCLUSIONS - K-ras codon 12 point mutations are very rare in PJS polyps, by contrast with colorectal adenomas. The findings support previous evidence that there seems to be no intrinsic relation between K-ras codon 12 mutation and dysplasia.

MeSH Terms (9)

Autoradiography Codon Genes, ras Glycine Humans Peutz-Jeghers Syndrome Point Mutation Polymerase Chain Reaction Valine

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