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中华结直肠疾病电子杂志

中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 6 -13. doi: 10.3877/cma.j.issn.2095-3224.2024.01.002

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Peutz-Jeghers综合征基因型研究及临床诊治进展
张智1, 董志伟1, 徐祖鑫2, 姜莉鑫3, 张玉辉1, 顾国利1,†()   
  1. 1. 100142　北京，中国人民解放军空军特色医学中心普通外科
    2. 100142　北京，中国人民解放军空军特色医学中心普通外科；230032　合肥，安徽医科大学第五临床学院
    3. 100142　北京，中国人民解放军空军特色医学中心普通外科；110122　沈阳，中国医科大学研究生院
  • 收稿日期:2023-10-16 出版日期:2024-02-25
  • 通信作者: 顾国利
  • 基金资助:
    空军军医大学临床项目(No.校科【2022】7号); 空军特色医学中心优秀人才项目(No. 22BJQN004)

Research progress on genotype, clinical diagnosis and treatment of Peutz-Jeghers syndrome

Zhi Zhang1, Zhiwei Dong1, Zuxin Xu2, Lixin Jiang3, Yuhui Zhang1, Guoli Gu1,†()   

  1. 1. Department of General Surgery, Air Force Medical Center of the Chinese People's Liberation Army, Beijing 100142, China
    2. Department of General Surgery, Air Force Medical Center of the Chinese People's Liberation Army, Beijing 100142, China; Fifth Clinical College of Anhui Medical University, Hefei 230032, China
    3. Department of General Surgery, Air Force Medical Center of the Chinese People's Liberation Army, Beijing 100142, China; Graduate School of China Medical University, Shenyang 110122, China
  • Received:2023-10-16 Published:2024-02-25
  • Corresponding author: Guoli Gu
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引用本文：

张智, 董志伟, 徐祖鑫, 姜莉鑫, 张玉辉, 顾国利. Peutz-Jeghers综合征基因型研究及临床诊治进展[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 6-13.

Zhi Zhang, Zhiwei Dong, Zuxin Xu, Lixin Jiang, Yuhui Zhang, Guoli Gu. Research progress on genotype, clinical diagnosis and treatment of Peutz-Jeghers syndrome[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 6-13.

Peutz-Jeghers综合征（PJS）是一种临床罕见的常染色体显性遗传病，该病以皮肤黏膜色素斑、胃肠道多发错构瘤息肉和家族遗传性为特征性临床表现，其罹患恶性肿瘤的发生率明显高于正常人群。该病的分子发病机制与抑癌基因STK11功能异常相关，但其遗传学背景复杂，临床异质性明显。目前的治疗以消化内镜的镜下治疗为主，辅之以外科手术，可显著延长患者的生存期，但尚无根治性的手段。本文复习了关于该病的相关文献，对其遗传学特性和临床治疗进展进行综述，并对未来的研究方向进行展望。

关键词: 遗传性疾病, 基因型, Peutz-Jeghers综合征, 临床表型, STK11

Peutz-Jeghers syndrome (PJS) is a clinical rare autosomal dominant genetic disease. The patients with Peutz-Jeghers syndrome are characterized by pigmented spots and multiple hamartomatous polyps in the gastrointestinal tract. The molecular pathogenesis of this disease is related to the abnormal function of the tumor suppressor gene STK11, but its genetic background is complex and its clinical heterogeneity is obvious. At present, endoscopic treatment is the main treatment, supplemented by surgery, which can significantly prolong the survival of patients, but there is no radical means. This article reviews relevant literature on this disease and provides a review of its genetic characteristics and clinical treatment progress, and prospect the future research direction.

Key words: Genetic diseases, Genotype, Peutz-Jeghers syndrome, Phenotype, STK11
图1 PJS临床表现（图片来自空军特色医学中心所诊治病例）。1A：口唇黑斑，1B：指端黑斑，1C：肠道内多发PJS息肉，1D：套叠肠管，1E：手术摘除息肉，1F：一次手术切除的PJS息肉标本
图2 PJS患者随访推荐方案
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