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中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 21 -25. doi: 10.3877/cma.j.issn.2095-3224.2024.01.004

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幼年性息肉病的临床病理学特征及研究进展
何宗杰1, 白辰光1,(), 高显华2, 张卫2   
  1. 1. 200433 上海,海军军医大学第一附属医院(上海长海医院)病理科
    2. 200433 上海,海军军医大学第一附属医院(上海长海医院)肛肠外科
  • 收稿日期:2023-10-16 出版日期:2024-02-25
  • 通信作者: 白辰光
  • 基金资助:
    国家自然科学基金(No.82372903); 上海市"科技创新行动计划"医学创新研究专项(No.21Y11912900)

Clinical pathologic characteristics and research progress of juvenile polyposis syndrome

Zongjie He1, Chenguang Bai1,(), Xianhua Gao2, Wei Zhang2   

  1. 1. Department of Pathology, the First Affiliated Hospital of Naval Medical University, Shanghai 200433, China
    2. Department of Colorectal Surgery, the First Affiliated Hospital of Naval Medical University, Shanghai 200433, China
  • Received:2023-10-16 Published:2024-02-25
  • Corresponding author: Chenguang Bai
引用本文:

何宗杰, 白辰光, 高显华, 张卫. 幼年性息肉病的临床病理学特征及研究进展[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 21-25.

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.

幼年性息肉病(JPS)是一种常染色体显性遗传的错构瘤性息肉综合征,以胃肠道出现多发幼年性息肉为主要表现,以结直肠息肉多见。JPS患者存在极高的胃肠道肿瘤发生风险,多数为结直肠癌,尽早检出尤为重要。JPS患者的幼年性息肉随疾病进展而呈现多样性的病理组织学表现,甚至出现腺瘤或腺癌结构,基因检测有助于精准诊断。约60%的JPS患者存在SMAD4和BMPR1A基因的胚系突变,PTEN、ENG和FOCAD等基因改变在少数病例中也有发现。JPS的治疗一般采取息肉切除或脏器切除,近年来在药物治疗方面也有所进展。

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.

图1 JPS患者结直肠幼年性息肉的组织学表现。1A~1D:幼年性息肉的典型组织学特征。腺上皮分化成熟,腺体不同程度的囊性扩张、黏液潴留,间质水肿伴肉芽组织增生,固有层存在多少不等的炎症细胞浸润;1E~1F:幼年性息肉局灶腺上皮非典型增生(1F为1E的局部放大);1G~1H:幼年性息肉部分区域呈现普通型腺瘤形态(1H为1G的局部放大)。放大倍数:A图40倍,B图40倍,C图20倍,D图5倍,E图20倍,F图50倍,G图10倍,H图50倍
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