Clinical pathologic characteristics and research progress of juvenile polyposis syndrome

doi:10.3877/cma.j.issn.2095-3224.2024.01.004

Abstract

Abstract:

Juvenile polyposis syndrome (JPS) is an autosomal dominant hamartomatous polyposis syndrome characterized by multiple juvenile polyps in the gastrointestinal tract, with colorectal polyps being more common. JPS patients have a high risk of developing gastrointestinal tumors, most of which are colorectal cancer, and early diagnosis is particularly important. Juvenile polyps in JPS patients exhibit diverse histological manifestations as the disease progresses, and even exhibit adenomas or adenocarcinoma. Genetic testing is helpful for accurate diagnosis of JPS patients. Approximatly 60% of JPS patients have germline mutations in the SMAD4 and BMPR1A genes, as well as genetic changes such as PTEN, ENG, and FOCAD in a few cases. The treatment of JPS generally involves polypectomy or organ resection, and new advances have also been made in drug treatment in recent years.

Key words: Intestinal polyposis, Juvenile polyposis syndrome, Juvenile polyp, Clinical feature, Histological manifestations, Molecular genetics

Zongjie He, Chenguang Bai, Xianhua Gao, Wei Zhang. Clinical pathologic characteristics and research progress of juvenile polyposis syndrome[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 21-25.

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References 36

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