Roberts Annette Gawron, Bujarska Malgorzata, Bauer Mislen, Brathwaite Carole, Pelaez Liset, Reeves-Garcia Jesse
From the Departments of Gastroenterology, Medical Education, and Pathology, Nicklaus Children's Hospital, Miami, Florida.
JPGN Rep. 2021 Sep 23;2(4):e123. doi: 10.1097/PG9.0000000000000123. eCollection 2021 Nov.
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare gastric polyposis syndrome defined by numerous polyps (>100) in the fundus and body of the stomach with sparing of the lesser curvature and antrum. GAPPS is linked to a variant in the promoter 1B region of the APC gene. These variants carry a high risk of developing gastric adenocarcinoma, which can occur at an early age. We report a case of GAPPS discovered in a 16-year-old Hispanic girl after endoscopy detected extensive fundic gland polyposis. Genetic testing revealed a promoter 1B point mutation of the APC gene, variant c.-191T>G. Although similar variants have been reported (i.e., c.-191T>C, c.-195A>C, c.-192A>G) in association with GAPPS, variant c.-191T>G has not nor has GAPPS ever been described in a Hispanic individual before.
胃腺癌和胃近端息肉病（GAPPS）是一种罕见的胃息肉病综合征，其定义为胃底和胃体有大量息肉（>100个），小弯侧和胃窦不受累。GAPPS与APC基因启动子1B区域的一个变体有关。这些变体具有发生胃腺癌的高风险，且可在早年发生。我们报告1例GAPPS病例，该病例是在一名16岁西班牙裔女孩接受内镜检查发现广泛的胃底腺息肉病后被发现的。基因检测显示APC基因启动子1B点突变，变体为c.-191T>G。尽管之前已有报道（如c.-191T>C、c.-195A>C、c.-192A>G）与GAPPS相关的类似变体，但变体c.-191T>G此前尚未见报道，西班牙裔个体中也从未有过GAPPS的描述。
