Gastric Adenocarcinoma in the Setting of IPEX Syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aber...

Descripción completa

Detalles Bibliográficos
Autores principales: Steffin, David, Bhar, Saleh, Fishman, Douglas S., Rider, Nicholas L., Naik-Mathuria, Bindi, Martinez, Caridad, Venkatramani, Rajkumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257369/
https://www.ncbi.nlm.nih.gov/pubmed/34258086
http://dx.doi.org/10.1155/2021/9967198
_version_ 1783718298547912704
author Steffin, David
Bhar, Saleh
Fishman, Douglas S.
Rider, Nicholas L.
Naik-Mathuria, Bindi
Martinez, Caridad
Venkatramani, Rajkumar
author_facet Steffin, David
Bhar, Saleh
Fishman, Douglas S.
Rider, Nicholas L.
Naik-Mathuria, Bindi
Martinez, Caridad
Venkatramani, Rajkumar
author_sort Steffin, David
collection PubMed
description Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.
format Online
Article
Text
id pubmed-8257369
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-82573692021-07-12 Gastric Adenocarcinoma in the Setting of IPEX Syndrome Steffin, David Bhar, Saleh Fishman, Douglas S. Rider, Nicholas L. Naik-Mathuria, Bindi Martinez, Caridad Venkatramani, Rajkumar Case Reports Immunol Case Report Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome. Hindawi 2021-06-25 /pmc/articles/PMC8257369/ /pubmed/34258086 http://dx.doi.org/10.1155/2021/9967198 Text en Copyright © 2021 David Steffin et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Steffin, David
Bhar, Saleh
Fishman, Douglas S.
Rider, Nicholas L.
Naik-Mathuria, Bindi
Martinez, Caridad
Venkatramani, Rajkumar
Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title_full Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title_fullStr Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title_full_unstemmed Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title_short Gastric Adenocarcinoma in the Setting of IPEX Syndrome
title_sort gastric adenocarcinoma in the setting of ipex syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257369/
https://www.ncbi.nlm.nih.gov/pubmed/34258086
http://dx.doi.org/10.1155/2021/9967198
work_keys_str_mv AT steffindavid gastricadenocarcinomainthesettingofipexsyndrome
AT bharsaleh gastricadenocarcinomainthesettingofipexsyndrome
AT fishmandouglass gastricadenocarcinomainthesettingofipexsyndrome
AT ridernicholasl gastricadenocarcinomainthesettingofipexsyndrome
AT naikmathuriabindi gastricadenocarcinomainthesettingofipexsyndrome
AT martinezcaridad gastricadenocarcinomainthesettingofipexsyndrome
AT venkatramanirajkumar gastricadenocarcinomainthesettingofipexsyndrome

Ejemplares similares