ヤノ　シュウヤ   Shuya Yano   矢野　修也    所属   川崎医科大学  医学部 臨床医学　消化器外科学    職種   講師
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	SMAD4 Germline Pathogenic Variant-Related Gastric Juvenile Polyposis with Adenocarcinoma Treated with Laparoscopic Total Gastrectomy: A Case Report.
掲載誌名	正式名：The American journal of case reports 略　 称：Am J Case Rep ISSNコード：19415923/19415923
掲載区分	国外
巻・号・頁	22,pp.e932241
著者・共著者	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
発行年月	2021/06
概要	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