Attenuated Familial Adenomatous Polyposis

Makoto Eizuka; Yosuke Toya; Takashi Kosaka; Tomofumi Oizumi; Toshifumi Morishita; Satoshi Kasugai; Shunichi Yanai; Tamotsu Sugai; Takayuki Matsumoto

doi:10.2169/internalmedicine.1101-22

CASE REPORTS

Attenuated Familial Adenomatous Polyposis

Makoto Eizuka, Yosuke Toya, Takashi Kosaka, Tomofumi Oizumi, Toshifumi Morishita, Satoshi Kasugai, Shunichi Yanai, Tamotsu Sugai, Takayuki Matsumoto

Author information

Makoto Eizuka
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Yosuke Toya
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Takashi Kosaka
Kosaka Internal Medicine and Gastroenterology Clinic, Japan
Tomofumi Oizumi
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Toshifumi Morishita
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Satoshi Kasugai
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Shunichi Yanai
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan
Tamotsu Sugai
Department of Molecular Diagnostic Pathology, School of Medicine, Iwate Medical University, Japan
Takayuki Matsumoto
Division of Gastroenterology and Hepatology, Department of Internal Medicine, School of Medicine, Iwate Medical University, Japan

Keywords: attenuated familial adenomatous polyposis, gastric adenocarcinoma and proximal polyposis of the stomach, desmoid tumor, APC-associated polyposis

JOURNAL OPEN ACCESS

2023 Volume 62 Issue 18 Pages 2651-2654

DOI https://doi.org/10.2169/internalmedicine.1101-22

Browse “Advance online publication” version

Details

Abstract

A 36-year-old man was diagnosed with multiple gastric polyps by esophagogastroduodenoscopy. Subsequent colonoscopy identified two tubular adenomas, and computed tomography revealed subcutaneous tumors. Based on these findings, we suspected that gastric polyposis was associated with the APC gene, either attenuated familial adenomatous polyposis (AFAP) or gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). A genetic analysis demonstrated that he had a frameshift variant at codon 1928 of APC, suggesting AFAP. In this era of less Helicobacter pylori infection and frequent use of proton pump inhibitors, diagnoses of AFAP and GAPPS should be considered in patients with prominent gastric fundic gland polyposis.

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