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hereditary polyposis syndromes remain a challenging disease entity:Old dilemmas and new insights

World Journal of Gastrointestinal Surgery 2023年第1期15卷 1-8页

作者： Frederik Rønne Pachler Anna Byrjalsen John Gásdal Karstensen Anne Marie Jelsig Danish polyposis Registry GastrounitCopenhagen University Hospital-Amager and Hvidovre HospitalHvidovre 2650Denmark Department of Clinical Genetics University Hospital of CopenhagenRigshospitaletCopenhagen 2100Denmark Department of Clinical Medicine University of CopenhagenHvidovre 2650Denmark

In this editorial we present an overview and insights of the management of hereditary polyposis syndromes.The primary focus was on familial adenomatous polyposis,juvenile polyposis syndrome and Peutz-Jegher syndrome.Genetic testing has become increasingly available and is easier than ever to integrate into clinical practice.Furthermore,several genes have been added to the expanding list of genes associated with hereditary polyposis syndromes,allowing for precise diagnostics and tailored follow-up.Endoscopic evaluation of patients with hereditary polyposis syndromes is paramount in the surveillance strategies.Current endoscopic procedures include both diagnostic procedures and surveillance as well as therapeutic interventions.Recommendations for endoscopic procedures in the upper and lower gastrointestinal canal were described.Surgery is still a key component in the management of patients with hereditary polyposis syndromes.The increased cancer risk in these patients often render prophylactic procedures or intended curative procedures in the case of cancer development.Surgical interventions in the upper and lower gastrointestinal canal were described with relevant considerations.Development of chemopreventive medications is ongoing.Few drugs have been investigated,including nonsteroidal anti-inflammatory drugs.It has been demonstrated that cyclooxygenase-2 inhibitors may lower the number of polyps.Other medications are currently under investigation,but none have,to date,consistently been able to prevent development of disease.

关键词： hereditary polyposis Familial adenomatous polyposis Juvenile polyposis syndrome Peutz-Jegher syndrome

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

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World Journal of Gastrointestinal Endoscopy 2023年第10期15卷 623-628页

作者： Michael Yulong Wu Christopher Toon Michael Field May Wong Department of Gastroenterology and Hepatology Royal North Shore HospitalSydney 2065New South WalesAustralia Northern Clinical School The University of SydneySydney 2065New South WalesAustralia NSW Health Pathology Department of Anatomical PathologyRoyal North Shore HospitalSydney 2065New South WalesAustralia Clinical Genetics Royal North Shore HospitalSydney 2065New South WalesAustralia

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

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