Abraham S C, Nobukawa B, Giardiello F M, Hamilton S R, Wu T T
Department of Pathology, Division of Gastroenterology, The Johns Hopkins University School of Medicine, Ross Building, Room 632, 720 Rutland Ave., Baltimore, MD 21205-2196, USA.
Am J Pathol. 2001 Mar;158(3):1005-10. doi: 10.1016/s0002-9440(10)64047-3.
Fundic gland polyps (FGPs) are the most common gastric polyps. FGPs traditionally have been regarded as nondysplastic hamartomatous or hyperplastic lesions, but their pathogenesis remains unclear. We have recently shown that somatic adenomatous polyposis coli (APC) gene alterations are frequently present in FGPs associated with familial adenomatous polyposis (FAP), raising the possibility that mutations of the beta-catenin gene affecting the APC/beta-catenin pathway might be involved in the pathogenesis of sporadic FGPs. We analyzed somatic beta-catenin gene mutations in 57 sporadic FGPs from 40 patients without FAP and in 19 FGPs from 13 FAP patients. Direct DNA sequencing of exon 3 encompassing the glycogen synthase kinase-3beta phosphorylation region for beta-catenin was used with confirmation by HIN:fI restriction endonuclease digestion. The foveolar epithelium and dilated fundic glands of the polyps were separately microdissected and analyzed in 22 of 57 sporadic FGPs. Activating beta-catenin gene mutations were present in 91% (52 of 57) of sporadic FGPs. Both the foveolar epithelium and the dilated fundic gland epithelium comprising the polyps were shown to have the same somatic beta-catenin mutation in 21 of 22 (95%) sporadic FGPs. In contrast, beta-catenin gene mutations were not present in any of the 19 FAP-associated FGPs (P: < 0.000001). The high frequency of beta-catenin mutations in sporadic FGPs indicates that these lesions arise through activating mutations of the beta-catenin gene. Beta-catenin mutations in gastrointestinal tract polyps have previously only been demonstrated in a subset of adenomatous (dysplastic) or neoplastic polyps. Sporadic FGPs are therefore the only lesions of the gastrointestinal tract to demonstrate beta-catenin mutations while lacking dysplastic morphology.
胃底腺息肉(FGPs)是最常见的胃息肉。传统上,FGPs被视为非发育异常的错构瘤性或增生性病变,但其发病机制仍不清楚。我们最近发现,与家族性腺瘤性息肉病(FAP)相关的FGPs中经常出现体细胞腺瘤性息肉病(APC)基因改变,这增加了影响APC/β-连环蛋白通路的β-连环蛋白基因突变可能参与散发性FGPs发病机制的可能性。我们分析了40例无FAP患者的57个散发性FGPs和13例FAP患者的19个FGPs中的体细胞β-连环蛋白基因突变。对包含β-连环蛋白糖原合酶激酶-3β磷酸化区域的外显子3进行直接DNA测序,并通过HIN:fI限制性内切酶消化进行确认。在57个散发性FGPs中的22个中,分别对息肉的小凹上皮和扩张的胃底腺进行了显微切割和分析。91%(57个中的52个)的散发性FGPs中存在激活的β-连环蛋白基因突变。在22个散发性FGPs中的2