Department of Molecular Pathology, Graduate School of Medicine, Ehime University, Shitsukawa, Toon City, Ehime, 791-0295, Japan.
Virchows Arch. 2014 Sep;465(3):253-6. doi: 10.1007/s00428-014-1612-8. Epub 2014 Jun 27.
Duodenal gastric heterotopia (DGH) is a benign asymptomatic condition assumed to be of congenital origin. Since DGH is often associated with fundic gland polyps (FGPs) that frequently carry a somatic β-catenin gene mutation, we examined whether DGH, either sporadic or FGP-associated, is attributable to alterations of the Wnt/β-catenin pathway. Genetic analysis revealed frequent somatic β-catenin gene mutations in DGH; some of which showed the same mutation pattern as coexisting FGPs. All missense mutations were confined to codons 32, 33, and 37. No such mutations were observed, however, in any of the specimens from focal gastric foveolar metaplasia (GFM). Therefore, DGH is not a mere congenital lesion due to aberrant migration of normal gastric mucosa or a simple reactive metaplasia after regenerative stimuli of the duodenal mucosa, but a distinct condition based upon molecular genetic changes in the Wnt/β-catenin pathway.
十二指肠胃黏膜异位（DGH）是一种良性无症状的疾病，被认为是先天的。由于 DGH 常与胃底腺息肉（FGP）相关，FGP 常携带体细胞β-catenin 基因突变，因此我们研究了 DGH（无论是散发的还是与 FGP 相关的）是否归因于 Wnt/β-catenin 通路的改变。遗传分析显示 DGH 中经常存在体细胞β-catenin 基因突变；其中一些与共存的 FGP 具有相同的突变模式。所有错义突变都局限于密码子 32、33 和 37。然而，在任何局灶性胃小凹上皮化生（GFM）的标本中均未观察到这种突变。因此，DGH 不是由于正常胃黏膜的异常迁移或十二指肠黏膜再生刺激后的单纯反应性化生引起的单纯先天性病变，而是基于 Wnt/β-catenin 通路的分子遗传学变化的一种独特疾病。
