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, PTEN, STK11, BMPR1A, SMAD4, ATM, AXIN2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, SCG5/GREM1, and TP53 genes
Related blog posts:
- Surprising Genetic Mutations in Polyposis Study
- Review: Polyposis in Pediatrics
- What I Like About ESPGHAN Familial Adenomatous Polyposis Guidelines These recommendations, however, suggest starting screening at 12-14 years.
- ESPGHAN Juvenile Polyposis Syndrome Recommendations These recommendations are different in that they do not recommend EGD in the pediatric age group: “Surveillance of the upper GI tract in affected or at-risk JPS patients is not required in childhood or teenage years, unless there is unexplained anaemia or upper GI symptoms.”
- ESPGHAN Peutz-Jeghers syndrome Guidelines
- Are You Familiar with CMMR-D? The term CMMR-D refers to constitutional mismatch repair deficiency. This occurs when an individual inherits two MMR gene defects (rather than one gene defect in Lynch syndrome); with CMMR-D screening recommendations include yearly endoscopic evaluation beginning at age 3 years or at diagnosis.
- Updated Guidelines on Genetic Testing/management for Hereditary GI Cancer Syndromes
- Update for Peutz-Jegher Syndrome
