Shuya Yano
   Department     Kawasaki Medical School, Department of Clinical Oncology,
   Position   Instructor
Article types 症例報告
Language English
Peer review Peer reviewed
Title SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report.
Journal Formal name:The American journal of case reports
Abbreviation:Am J Case Rep
ISSN code:19415923/19415923
Domestic / ForeginForegin
Volume, Issue, Page 22,e932241頁
Author and coauthor Sakurai Yuya, Kikuchi Satoru, Shigeyasu Kunitoshi, Kakiuchi Yoshihiko, Tanaka Takehiro, Umeda Hibiki, Sakamoto Masaki, Takeda Sho, Yano Shuya, Futagawa Mashu, Kato Fumino, Sogawa Reimi, Yamamoto Hideki, Kuroda Shinji, Kondo Yoshitaka, Teraishi Fuminori, Kishimoto Hiroyuki, Nishizaki Masahiko, Kagawa Shunsuke, Hirasawa Akira, Fujiwara Toshiyoshi
Publication date 2021/06
Summary 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.
DOI 10.12659/AJCR.932241
PMID 34143765