Polyposis found on index colonoscopy in a 56-year-old female-BMPR1A variant in juvenile polyposis syndrome:A case report  

作　　者：Michael Yulong Wu Christopher Toon Michael Field May Wong 

机构地区：[1]Department of Gastroenterology and Hepatology,Royal North Shore Hospital,Sydney 2065,New South Wales,Australia [2]Northern Clinical School,The University of Sydney,Sydney 2065,New South Wales,Australia [3]NSW Health Pathology,Department of Anatomical Pathology,Royal North Shore Hospital,Sydney 2065,New South Wales,Australia [4]Clinical Genetics,Royal North Shore Hospital,Sydney 2065,New South Wales,Australia

出　　处：《World Journal of Gastrointestinal Endoscopy》2023年第10期623-628,共6页世界胃肠内镜杂志（英文版）（电子版）

摘　　要：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.

关 键 词：Juvenile polyposis syndrome POLYPS Colorectal polyp Hereditary polyposis Cancer Case report 

分 类 号：R574.62[医药卫生—消化系统]