Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depend
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CASE REPORT
Different phenotypes of gastric fundic gland polyposis and cancer in patients with familial adenomatous polyposis depending on Helicobacter pylori infection Yasuhiro Mitsui1 · Ayaka Miyoshi1 · Koichi Okamoto1 · Naoki Muguruma1 · Jinsei Miyoshi1 · Kumiko Tanaka1 · Shinji Kitamura1 · Hiroshi Miyamoto1 · Yasushi Sato1 · Yoshimi Bando2 · Joji Shunto3 · Hidetaka Eguchi4 · Yasushi Okazaki4 · Hideyuki Ishida5 · Tetsuji Takayama1 Received: 26 June 2019 / Accepted: 2 September 2019 © The International Gastric Cancer Association and The Japanese Gastric Cancer Association 2019
Abstract A 37-year-old male with tarry stool presented to our hospital. Esophagogastroduodenoscopy revealed advanced gastric cancer, fundic gland polyposis (FGPsis), and negativity for Helicobacter pylori (HP) infection. Computed tomography exhibited multiple liver tumors. Total colonoscopy (TCS) demonstrated 139 tubular adenomas. He was diagnosed as having unresectable gastric cancer and received systemic chemotherapy. His sister and mother had colorectal adenomatous polyposis as revealed by TCS. His sister had FGPsis and was negative for HP infection, whereas his mother had early gastric cancer with HP infection but not FGPsis. Genetic analysis revealed a novel mutation in exon 15 of the APC gene (NM_000038.5: c.7647_7648_delTG) for the patient, his mother, and his sister, whereas no mutation was found for his father who had no gastrointestinal polyps. Therefore, the pedigree was diagnosed as an FAP family with a novel APC germline mutation which had different gastric phenotypes depending on the status of HP infection. Keywords Familial adenomatous polyposis · APC gene · Helicobacter pylori
Introduction
* Tetsuji Takayama takayama@tokushima‑u.ac.jp 1
Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, 3‑18‑15, Kuramoto‑cho, Tokushima city, Tokushima 770‑8503, Japan
2
Division of Pathology, Tokushima University Hospital, 2‑50‑1, Kuramoto‑cho, Tokushima city, Tokushima 770‑8503, Japan
3
Shunto Clinic, 32‑1, Matsushige‑cho, Itano country, Tokushima 771‑0220, Japan
4
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Hongo 2‑1‑1, Bunkyo‑ku, Tokyo 113‑8421, Japan
5
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda‑Tsujido‑cho, Kawagoe city, Saitama 350‑8550, Japan
Familial adenomatous polyposis (FAP) is an autosomal dominant disease characterized by multiple colonic adenomas caused by a germline mutation of the adenomatous polyposis coli (APC) gene [1–4]. FAP patients exhibit various upper gastrointestinal manifestations; namely, gastric adenoma/cancer and fundic gland polyposis (FGPsis) of the stomach [5]. In general, sporadic fundic gland polyps (FGPs) have been considered to be benign lesions because of its little or no malignant potential [6, 7]. Moreover, although FGPsis has also been regarded as a benign lesion, in 1999, Hofgärtner and colleagues reported a
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