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. 1997 Sep;41(3):320–322. doi: 10.1136/gut.41.3.320

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

M Entius 1, A Westerman 1, F Giardiello 1, M-L F van Velthuysen 1, M Polak 1, R Slebos 1, J Wilson 1, S Hamilton 1, G Offerhaus 1
PMCID: PMC1891488  PMID: 9378385

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. 



Keywords: Peutz-Jeghers syndrome; polyps; dysplasia; K-ras codon 12 mutations

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Figure 1 .

Figure 1

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: (A) Non-dysplastic and (B) dysplastic microscopic sections from the PJS polyp positive for a K-ras codon 12 mutation. This polyp shows heterogeneity for the K-ras mutation with the mutation solely found in the non-dysplastic section (haematoxylin and eosin). 


Figure 2 .

Figure 2

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: Autoradiograph of K-ras codon 12 point mutation analysis in PJS polyps. Left column of the panels: mutant unenriched PCR products. Right column: mutant enriched PCR products. Row 1, positive control for wild type K-ras codon 12 (left column), positive controls for wild type K-ras codon 12, Arg mutant K-ras, and Val mutant K-ras (right column), respectively. Rows 2 and 3, PCR products from dysplastic section of the polyp with K-ras mutation (in duplicate). Rows 4 and 5, PCR products of non-dysplastic section (in duplicate). Row 6, PCR product of PJS polyp negative for K-ras codon 12 mutation. Row 7, PCR products from the entire PJS polyp positive for the K-ras mutation. Row 8, positive (placenta DNA) PCR control. Row 9, buffer only (negative) PCR control. 


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