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Juvenile polyposis syndrome: An overview
Arianna Dal Buono1, Federica Gaiani2, Laura Poliani3
1Division of Gastroenterology, Department of Gastroenterology, Humanitas Research Hospital - IRCCs, Rozzano, Milan, Italy.
Insights
Juvenile polyposis syndrome (JPS) is an autosomal dominant precancerous condition with a high risk of gastrointestinal cancers. Early diagnosis and endoscopic screening are crucial for cancer risk reduction and management.
Area of Science:
- Gastroenterology
- Genetics
- Oncology
Background:
- Juvenile polyposis syndrome (JPS) is a rare, autosomal dominant disorder characterized by numerous hamartomatous juvenile polyps in the gastrointestinal tract.
- JPS significantly increases the risk of gastrointestinal cancers, with an estimated cumulative risk of colorectal cancer (CRC) between 39-68%.
Purpose of the Study:
- To review the clinical and genetic features of Juvenile polyposis syndrome.
- To outline the diagnostic and surveillance strategies for managing JPS patients and reducing cancer risk.
Main Methods:
- Literature review summarizing clinical presentations, genetic underpinnings, and management guidelines for JPS.
- Analysis of diagnostic criteria, differential diagnoses (e.g., Peutz-Jeghers, Cowden syndrome), and recommended screening protocols.
Main Results:
- JPS diagnosis involves identifying numerous juvenile polyps and excluding other hamartomatous polyposis syndromes.
- Pathogenic variants in BMPR1A or SMAD4 genes are the primary genetic causes of JPS.
- Extra-intestinal manifestations, including cutaneous and skeletal findings, can be associated with JPS.
Conclusions:
- JPS requires vigilant clinical suspicion and genetic testing for accurate diagnosis.
- Proactive endoscopic screening and surveillance are essential for early detection and management of gastrointestinal cancers in JPS patients.
Abstract:
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. The inheritance pattern is autosomal dominant. JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- Jeghers and Cowden), in presence of numerous juvenile polyps in the colorectum or in other GI locations. Among the syndromic features, JPS can present with concomitant extra-intestinal manifestations, above all cutaneous manifestations such as telangiectasia, pigmented nevi, and skeletal stigmata. Pathogenic germline variants of either BMPR1A or SMAD4 cause the syndrome. In JPS a cumulative risk of CRC of 39-68% has been estimated. The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endoscopic screening, as recommended by international scientific societies. The aim of this review is to summarize clinical and genetic features of JPS and to elucidate the steps of the clinical management from diagnosis to surveillance.
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