胃小窝型十二指肠增生性息肉伴GNAS和KRAS突变:肿瘤的潜在前兆。

IF 1.5 Q4 GASTROENTEROLOGY & HEPATOLOGY
DEN open Pub Date : 2025-09-15 DOI:10.1002/deo2.70207
Kenji Yamazaki, Ryoji Kushima, Noritaka Ozawa, Haruka Koizumi, Saeka Hayashi, Atsushi Soga, Koji Yamashita, Shogo Shimizu, Masahito Shimizu
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引用次数: 0

摘要

我们报告了一个胃小窝型的十二指肠增生性息肉,在GNAS和KRAS基因中存在突变。病变是在一名50多岁男子的常规上消化道内窥镜检查中偶然发现的。它表现为位于十二指肠上角的一个10毫米高的病变。胃镜下周围粘膜未见胃小窝化生(GFM)或异位胃黏膜(HGM)。内镜下粘膜切除术作为诊断治疗。组织病理学显示胃小窝型上皮细胞弥漫性、单调增生,未见细胞学异常增生,免疫组织化学分析显示MUC5AC弥漫性阳性。遗传分析显示GNAS和KRAS基因均存在激活突变。基于这些发现,最终诊断为胃小窝型增生性息肉,含有GNAS和KRAS突变。这种突变在幽门腺腺瘤和胃型十二指肠腺癌中也有报道。近端非壶腹性十二指肠上皮肿瘤通常与胃型黏液蛋白表型相关,具有较高的恶性潜能。壶腹近端癌的潜在前体病变包括GFM和HGM。本病例支持这样的假设,即一些具有胃黏液蛋白表型的十二指肠病变可能存在与肿瘤过程典型相关的分子改变,尽管它们的外观是非肿瘤,这表明它们可能是肿瘤形成的前兆。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Gastric Foveolar-Type Hyperplastic Polyp of the Duodenum With GNAS and KRAS Mutations: A Potential Precursor to Neoplasia

Gastric Foveolar-Type Hyperplastic Polyp of the Duodenum With GNAS and KRAS Mutations: A Potential Precursor to Neoplasia

We report a gastric foveolar-type hyperplastic polyp of the duodenum harboring mutations in the GNAS and KRAS genes. The lesion was incidentally detected during a routine upper gastrointestinal endoscopy in a man in his 50s. It appeared as a 10-mm elevated lesion located at the superior duodenal angle. The surrounding mucosa showed no endoscopic evidence of gastric foveolar metaplasia (GFM) or heterotopic gastric mucosa (HGM). Endoscopic mucosal resection was performed as diagnostic treatment. Histopathology showed a diffuse, monotonous proliferation of gastric foveolar-type epithelial cells without cytological dysplasia, and immunohistochemical analysis showed diffuse positivity for MUC5AC. Genetic analysis revealed activating mutations in both the GNAS and KRAS genes. Based on these findings, the final diagnosis was a gastric foveolar-type hyperplastic polyp harboring GNAS and KRAS mutations. Such mutations have also been reported in pyloric gland adenomas and gastric-type duodenal adenocarcinomas. Proximal non-ampullary duodenal epithelial tumors are often linked to a gastric-type mucin phenotype with higher malignant potential. Potential precursor lesions for carcinomas proximal to the ampulla include GFM and HGM. This case supports the hypothesis that some duodenal lesions with the gastric-mucin phenotype may harbor molecular alterations typically associated with neoplastic processes despite their non-neoplastic appearance, suggesting a potential role as precursors to neoplasia.

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