Sporadic fundic gland polyposis: A clinical, histological, and molecular analysis
Sporadic fundic gland polyposis: A clinical, histological, and molecular analysis
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DOI：
10.1097/01.mp.0000018976.15044.9b
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发表时间：
2002-07-01
期刊：
影响因子：
7.5
通讯作者：
Wu, TT
中科院分区：
文献类型：
--
作者：
Torbenson, M;Lee, JH;Wu, TT
散发性胃底腺息肉病（SFGP）是指在没有家族性腺瘤性息肉病综合征（FAP）的患者中发生的多发性胃底腺息肉。虽然对SFGP的遗传变化知之甚少，但最近Wnt信号通路的突变与其他情况下的胃底腺息肉有关：散发性息肉与激活β-连环蛋白突变有关，而FAP相关的胃底腺息肉是由腺瘤性结肠息肉病基因中的第二体细胞命中引起的。SFGP、单个散发性fmdic腺息肉和FAP相关息肉之间的关系尚不清楚，SFGP在临床、组织学和分子水平上的特征仍然很差。对8例SFGP患者进行了回顾性研究，这些患者具有2：10的息肉，至少有5个内窥镜活检标本可用于研究。另外一名接受胃部分切除术的FAP患者作为对照。对病历和活检标本进行了审查。通过直接测序编码GSK-3 β磷酸化位点的β-连环蛋白基因外显子3中的突变热点和HinfI内切酶消化试验，评价每个胃底腺以及对照非息肉样组织中β-连环蛋白基因的突变。研究中的四名男性和四名女性在活检时的平均年龄为57岁。所有患者均接受抑酸治疗，5/8例使用质子泵抑制剂（PPI），3/8例使用Zantac。研究了62个息肉，
Sporadic fundic gland polyposis (SFGP) is defined as multiple fundic gland polyps in patients without familial adenomatous polyposis syndrome (FAP). Although little is known about the genetic changes in SFGP, mutations in the Wnt signaling pathway have been recently linked to fundic gland polyps in other settings: sporadic polyps are linked to activating beta-catenin mutations, whereas FAP-associated fundic gland polyps are caused by second somatic hits in the adenomatous polyposis coli gene. The relationship between SFGP, single sporadic ftmdic gland polyps, and FAP-associated polyps remains unclear, and SFGP remain poorly characterized at the clinical, histological, and molecular levels. A retrospective study was undertaken of eight patients with SFGP who had 2:10 polyps with at least five endoscopic biopsy specimens available for study. One additional patient with attenuated FAP who underwent partial gastrectomy was included as a control. The medical records and biopsy specimens were reviewed. Mutations of the beta-catenin gene were evaluated in each fundic gland as well as in control nonpolypoid tissue by direct sequencing of a mutational hot spot in exon 3 of the beta-catenin gene, which encodes the GSK-3beta phosphorylation sites, and a HinfI endonuclease digestion assay. The four men and four women in the study were an average of 57 years of age at biopsy. All patients were on acid-suppression therapy, 5/8 with proton-pump inhibitors (PPI) and 3/8 with Zantac. Sixtytwo polyps were studied, and all were