Gastric Polyposis in 16 Year-Old

AG Roberts et al. JPGN Reports; 2021. – Volume 2 – Issue 4 – p e123. Open Access: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G

“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.” Case report in a 16 yo who ultimately underwent a total gastrectomy. The geneticist identified the APC gene mutation with the OncoGeneDx Colorectal Panel by GeneDx. The rationale for the selection of this gene panel was its ability to examine 20 different genes involved in hereditary colorectal cancer and other gastrointestinal cancers. This panel checks APC, POLE, PTENSTK11BMPR1ASMAD4ATMAXIN2CDH1CHEK2EPCAMMLH1MSH2MSH6MUTYHNTHL1PMS2POLD1SCG5/GREM1, and TP53 genes

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