Abstract
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-neoplastic 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.
Original language | English (US) |
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Pages (from-to) | 320-322 |
Number of pages | 3 |
Journal | Gut |
Volume | 41 |
Issue number | 3 |
DOIs | |
State | Published - 1997 |
Externally published | Yes |
Keywords
- Dysplasia
- K-ras codon 12 mutations
- Peutz-Jeghers syndrome
- Polyps
ASJC Scopus subject areas
- Gastroenterology