SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report

Am J Case Rep. 2021 Jun 18:22:e932241. doi: 10.12659/AJCR.932241.


BACKGROUND Juvenile polyposis syndrome is an uncommon, autosomal-dominant hereditary disease that is distinguished by multiple polyps in the stomach or intestinal tract. It is associated with a high risk of malignancy. Pathogenic variants in SMAD4 or BMPR1A account for 40% of all cases. CASE REPORT A 49-year-old woman underwent esophagogastroduodenoscopy because of exacerbation of anemia. She had numerous erythematous polyps in most parts of her stomach. Based on biopsy findings, juvenile polyposis syndrome (JPS) was suspected morphologically, but there was no evidence of malignancy. Colonoscopy showed stemmed hyperplastic polyps and an adenoma; video capsule endoscopy revealed no lesions in the small intestine. After preoperative surveillance, laparoscopic total gastrectomy with D1 lymph node dissection was performed to prevent malignant transformation. The pathological diagnosis was juvenile polyp-like polyposis with adenocarcinoma. In addition, a germline pathogenic variant in the SMAD4 gene was detected with genetic testing. CONCLUSIONS JPS can be diagnosed with endoscopy and genetic testing. Further, appropriate surgical management may prevent cancer-related death in patients with this condition.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma* / genetics
  • Adenocarcinoma* / surgery
  • Endoscopy, Digestive System
  • Female
  • Gastrectomy
  • Germ Cells
  • Humans
  • Intestinal Polyposis / congenital
  • Laparoscopy*
  • Middle Aged
  • Neoplastic Syndromes, Hereditary
  • Smad4 Protein / genetics
  • Stomach


  • SMAD4 protein, human
  • Smad4 Protein

Supplementary concepts

  • Juvenile polyposis syndrome