Open AccessGastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.‐191T>G
Author(s) -
Roberts Annette Gawron,
Bujarska Malgorzata,
Bauer Mislen,
Brathwaite Carole,
Pelaez Liset,
ReevesGarcia Jesse
Publication year - 2021
Publication title -
jpgn reports
Language(s) - English
Resource type - Journals
ISSN - 2691-171X
DOI - 10.1097/pg9.0000000000000123
Subject(s) - stomach , adenocarcinoma , curvatures of the stomach , medicine , gastroenterology , gene , mutation , cancer , biology , genetics
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.