黑斑息肉综合征息肉、发育异常及K-ras密码子12突变
Peutz-Jeghers polyps, dysplasia, and K-ras codon 12 mutations.
作者信息
Entius M M, Westerman A M, Giardiello F M, van Velthuysen M L, Polak M M, Slebos R J, Wilson J H, Hamilton S R, Offerhaus G J
机构信息
Department of Pathology, University of Amsterdam, The Netherlands.
出版信息
Gut. 1997 Sep;41(3):320-2. 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.
背景
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传息肉病综合征，与胃肠道和胃肠道外恶性肿瘤风险增加相关。PJS息肉偶尔会发生发育异常。
目的
在结直肠癌中，K-ras癌基因第12密码子突变很常见，且在前体腺瘤中的发生频率相似。因此，对PJS息肉中的K-ras第12密码子点突变进行了评估。
材料与方法
从19例PJS患者中收集了52个PJS息肉，包括4个发育异常的息肉，通过突变富集聚合酶链反应程序分析K-ras第12密码子的突变，随后进行等位基因特异性寡脱氧核苷酸杂交。
结果
在一个发育异常的结肠息肉中鉴定出K-ras第12密码子突变。该突变存在于非肿瘤性上皮细胞中，而不存在于息肉的发育异常成分中。
结论
与结直肠腺瘤相比，K-ras第12密码子点突变在PJS息肉中非常罕见。这些发现支持了先前的证据，即K-ras第12密码子突变与发育异常之间似乎没有内在联系。
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