Smad4 germline pathogenic variant-related gastric juvenile polyposis with adenocarcinoma treated with laparoscopic total gastrectomy: A case report

Yuya Sakurai, Satoru Kikuchi, Kunitoshi Shigeyasu, Yoshihiko Kakiuchi, Takehiro Tanaka, Hibiki Umeda, Masaki Sakamoto, Sho Takeda, Shuya Yano, Mashu Futagawa, Fumino Kato, Reimi Sogawa, Hideki Yamamoto, Shinji Kuroda, Yoshitaka Kondo, Fuminori Teraishi, Hiroyuki Kishimoto, Masahiko Nishizaki, Shunsuke Kagawa, Akira HirasawaToshiyoshi Fujiwara

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: Rare disease 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.

Original languageEnglish
Article numbere932241
JournalAmerican Journal of Case Reports
Volume22
Issue number1
DOIs
Publication statusPublished - 2021

Keywords

  • Gastrectomy
  • Juvenile Polyposis Syndrome
  • SMAD4 Protein, Human
  • Stomach Neoplasms

ASJC Scopus subject areas

  • Medicine(all)

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