Wu MY, Toon C, Field M, Wong M. Polyposis found on index colonoscopy in a 56-year-old female - BMPR1A variant in juvenile polyposis syndrome: A case report. World J Gastrointest Endosc 2023; 15(10): 623-628 [PMID: 37900118 DOI: 10.4253/wjge.v15.i10.623]
Corresponding Author of This Article
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
Research Domain of This Article
Oncology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastrointest Endosc. Oct 16, 2023; 15(10): 623-628 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, Christopher Toon, Michael Field, May Wong
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
Abstract
BACKGROUND
Juvenile polyposis syndrome (JPS) is a rare hereditary polyposis disease frequently associated with an autosomal-dominant variant of the SMAD4 or BMPR1A gene. It often manifests with symptoms in children and adolescents and is infrequently diagnosed in asymptomatic adults. Establishing the diagnosis is important as patients with JPS have a high risk of developing gastrointestinal cancer and require genetic counselling and close routine follow-up.
CASE SUMMARY
We report on the case of a 56-year-old female diagnosed with JPS after genetic testing revealed a rare variant of the BMPR1A gene BMPR1A c.1409T>C (p.Met470Thr). She was initially referred for colonoscopy by her general practitioner after testing positive on a screening faecal immunochemical test and subsequently found to have polyposis throughout the entire colorectum on her index screening colonoscopy. The patient was asymptomatic with a normal physical examination and no related medical or family history. Blood tests revealed only mild iron deficiency without anemia. To date, there has only been one other reported case of JPS with the same genetic variant. Subsequent colonoscopies were organised for complete polyp clearance and the patient was returned for surveillance follow-up.
CONCLUSION
JPS patients can present with no prior symptoms or family history. Genetic testing plays an important diagnostic role guiding management.
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.
