Attenuated Familial Adenomatous Polyposis

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, eit...

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Autores principales: Eizuka, Makoto, Toya, Yosuke, Kosaka, Takashi, Oizumi, Tomofumi, Morishita, Toshifumi, Kasugai, Satoshi, Yanai, Shunichi, Sugai, Tamotsu, Matsumoto, Takayuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569909/
https://www.ncbi.nlm.nih.gov/pubmed/36725040
http://dx.doi.org/10.2169/internalmedicine.1101-22
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author Eizuka, Makoto
Toya, Yosuke
Kosaka, Takashi
Oizumi, Tomofumi
Morishita, Toshifumi
Kasugai, Satoshi
Yanai, Shunichi
Sugai, Tamotsu
Matsumoto, Takayuki
author_facet Eizuka, Makoto
Toya, Yosuke
Kosaka, Takashi
Oizumi, Tomofumi
Morishita, Toshifumi
Kasugai, Satoshi
Yanai, Shunichi
Sugai, Tamotsu
Matsumoto, Takayuki
author_sort Eizuka, Makoto
collection PubMed
description 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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spelling pubmed-105699092023-10-13 Attenuated Familial Adenomatous Polyposis Eizuka, Makoto Toya, Yosuke Kosaka, Takashi Oizumi, Tomofumi Morishita, Toshifumi Kasugai, Satoshi Yanai, Shunichi Sugai, Tamotsu Matsumoto, Takayuki Intern Med Case Report 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. The Japanese Society of Internal Medicine 2023-02-01 2023-09-15 /pmc/articles/PMC10569909/ /pubmed/36725040 http://dx.doi.org/10.2169/internalmedicine.1101-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Eizuka, Makoto
Toya, Yosuke
Kosaka, Takashi
Oizumi, Tomofumi
Morishita, Toshifumi
Kasugai, Satoshi
Yanai, Shunichi
Sugai, Tamotsu
Matsumoto, Takayuki
Attenuated Familial Adenomatous Polyposis
title Attenuated Familial Adenomatous Polyposis
title_full Attenuated Familial Adenomatous Polyposis
title_fullStr Attenuated Familial Adenomatous Polyposis
title_full_unstemmed Attenuated Familial Adenomatous Polyposis
title_short Attenuated Familial Adenomatous Polyposis
title_sort attenuated familial adenomatous polyposis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10569909/
https://www.ncbi.nlm.nih.gov/pubmed/36725040
http://dx.doi.org/10.2169/internalmedicine.1101-22
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