Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations:: An entity characterized by a mixed hypertrophic and polypoid gastropathy
Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations:: An entity characterized by a mixed hypertrophic and polypoid gastropathy
复制标题
DOI：
10.1016/j.gcb.2007.11.008
复制
发表时间：
2008-05-01
影响因子：
--
通讯作者：
Bretagne, J. -F.
中科院分区：
文献类型：
--
作者：
Pintiliciuc, O. G.;Heresbach, D.;Bretagne, J. -F.
与胚系Smad4突变相关的单纯胃型幼年性息肉病是一种罕见的临床实体，在没有大肠病变的情况下通常很难诊断。我们描述了两例不相关的幼年性息肉病唯一或主要的胃部表现。内窥镜下，我们发现了一种罕见的肥厚性息肉样胃病，粘膜表面有大量粘液附着。最初诊断为增生性息肉，两例患者的胃大体活检标本检查和Smad4基因突变鉴定都证实了诊断。病例1建议密切上消化道监测，预防性全胃切除2例。局限于胃的青少年息肉病是一种与Smad4突变有关的罕见疾病。每当遇到混合型、肥厚型和息肉样胃病时，都应该考虑这样的诊断。(C)2008年爱思唯尔·马森公司。版权所有。
Exclusively gastric form of juvenile polyposis associated with germline SMAD4 mutation is a rare clinical entity and is usually difficult to diagnose in the absence of colorectal lesions. We describe the phenotype of two unrelated cases of exclusive or predominant gastric expression of juvenile polyposis. Endoscopically, we found an unusual hypertrophic and polypoid gastropathy with abundant mucus adhering to the mucosal surface. Initially diagnosed as hyperplastic polyps, examination of gastric macrobiopsy specimens and identification of SMAD4 gene mutation in both cases confirmed the diagnosis. Close upper GI surveillance was proposed in case 1 and prophylactic total gastrectomy in the second one. Juvenile polyposis limited to the stomach is a rare condition that is linked to SMAD4 mutations. Such a diagnosis should be considered whenever a mixed, hypertrophic and polypoid gastropathy is encountered. (c) 2008 Elsevier Masson SAS. All rights reserved.