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Medline ® Abstract for Reference 34

of 'Peutz-Jeghers syndrome: Epidemiology, clinical manifestations, and diagnosis'

34
TI
Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations.
AU
Entius MM, Westerman AM, Giardiello FM, van Velthuysen ML, Polak MM, Slebos RJ, Wilson JH, Hamilton SR, Offerhaus GJ
SO
Gut. 1997;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.
AD
Department of Pathology, University of Amsterdam, The Netherlands.
PMID