Copyright
©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Endosc. Oct 16, 2023; 15(10): 623-628
Published online Oct 16, 2023. doi: 10.4253/wjge.v15.i10.623
Published online Oct 16, 2023. doi: 10.4253/wjge.v15.i10.623
Polyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report
Michael Yulong Wu, May Wong, Department of Gastroenterology and Hepatology, Royal North Shore Hospital, Sydney 2065, New South Wales, Australia
Michael Yulong Wu, May Wong, Northern Clinical School, The University of Sydney, Sydney 2065, New South Wales, Australia
Christopher Toon, NSW Health Pathology, Department of Anatomical Pathology, Royal North Shore Hospital, Sydney 2065, New South Wales, Australia
Michael Field, Clinical Genetics, Royal North Shore Hospital, Sydney 2065, New South Wales, Australia
Author contributions: Wu MY and Wong M contributed to manuscript writing and editing; Toon C contributed to anatomical pathology analysis and manuscript editing; Field M contributed to genetic analysis and manuscript editing; All authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare no conflict-of-interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Michael Yulong Wu, MD, Doctor, Department of Gastroenterology and Hepatology, Royal North Shore Hospital, 1 Reserve Road, Sydney 2065, New South Wales, Australia. michaelyulong@gmail.com
Received: May 10, 2023
Peer-review started: May 10, 2023
First decision: July 9, 2023
Revised: July 21, 2023
Accepted: July 31, 2023
Article in press: July 31, 2023
Published online: October 16, 2023
Peer-review started: May 10, 2023
First decision: July 9, 2023
Revised: July 21, 2023
Accepted: July 31, 2023
Article in press: July 31, 2023
Published online: October 16, 2023
Core Tip
Core Tip: Juvenile polyposis syndrome (JPS) is a hereditary autosomal dominant disease that phenotypically presents with polyposis throughout the colorectum. Detection and diagnosis is important as patients have a high risk of developing gastrointestinal cancer. Symptoms often manifest in childhood and adolescence with most having evidence of an associated family history. We report a case of polyposis found on index screening endoscopy in an asymptomatic female with no prior related family or medical history. Subsequent genetic testing led to the diagnosis of JPS after detecting a rare variant of the BMPR1A gene previously only reported in one other case of JPS.