Peutz-Jeghers综合征

定义 英文原文（暂无中文）

A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.

别名

错构瘤样肠息肉病

基本事实

遗传方式

常染色体显性

发病年龄

青少年期、成年期、儿童期

患病率

1-9 / 100 000

相关基因 1

临床表型 33

近两年的全球研究 655L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-10
  Abstracts
  JPGN reports
• 2026-10开放获取
  Outcomes of 'in-house' genetic testing within a specialist hereditary colorectal cancer registry
  Colorectal disease : the official journal of the Association of Colopr · DOI · Europe PMC
• 2026-09开放获取
  Developmental experiences of female patients diagnosed with Peutz-Jeghers syndrome in childhood: a qualitative study based on the social ecological model in China
  BMJ open · DOI · Europe PMC
• 2026-09综述开放获取
  The Gut-Skin Axis in Atopic Dermatitis and Inflammatory Bowel Disease: Mechanisms, Microbiota, and Therapeutic Implications
  Journal of personalized medicine · DOI · Europe PMC
• 2026-09开放获取
  Conserved Epithelial Remodeling Programs Underlie Pediatric Juvenile Colorectal Polyps Associated with Allergic Sensitization
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09综述开放获取
  Closing the Diagnostic Gap in Early-Onset Colorectal Cancer: Red-Flag Symptoms, Screening, and Inherited Risk
  Cancers · DOI · Europe PMC
• 2026-09综述开放获取
  <i>STK11</i>/LKB1 Loss in Cancer: From Developmental Constraint to Stress-Adapted Malignancy
  Cancers · DOI · Europe PMC
• 2026-09
  STK11 adnexal tumor mimicking a female adnexal tumor of probable Wolffian origin (FATWO) associated with Peutz-Jeghers syndrome: A brief review
  Indian journal of pathology & microbiology · DOI · Europe PMC
• 2026-09综述开放获取
  Oral Pigmentation in Children: A Narrative Review and Practical Diagnostic Framework
  Cureus · DOI · Europe PMC
• 2026-09综述开放获取
  Cronkhite-Canada syndrome: An elusive gastrointestinal disorder with multisystem involvement-pathogenesis, diagnosis, and therapeutic strategies
  World journal of gastrointestinal pathophysiology · DOI · Europe PMC
• 2026-09开放获取
  Presumed Intraductal Papillary Mucinous Neoplasms in Individuals at High Risk for Pancreatic Cancer
  JAMA network open · DOI · Europe PMC
• 2026-09开放获取
  Real‐Time AI‐Assisted Detection of Colonic Lesions Using the iIDEAS Intelligent‐C Module: A Prospective Single‐Center Validation Study
  JGH open : an open access journal of gastroenterology and hepatology
• 2026-09综述开放获取
  Current insights into the diagnosis and management of small bowel bleeding
  The Korean journal of internal medicine · DOI · Europe PMC
• 2026-09综述开放获取
  Optimizing multiple diagnostic modalities for small bowel evaluation: a strategic approach
  The Korean journal of internal medicine · DOI · Europe PMC
• 2026-09开放获取
  STK11 Mutations and Deletions Define an Aggressive Molecular Subgroup of Cervical Adenocarcinoma
  Cancer medicine · 被引 1 · DOI · Europe PMC
• 2026-09开放获取
  Pathological lead points in pediatric secondary intussusception: A single-center retrospective observational study of five common etiologies
  Medicine · DOI · Europe PMC
• 2026-08开放获取
  Targeting LKB1-inactivated lung cancers with a stapled peptide inhibitor of the CRTC-CREB pathway
  Molecular therapy. Oncology · DOI · Europe PMC
• 2026-08开放获取
  Exploring Traditional Breast Cancer Risk Genes Among Aboriginal and Torres Strait Islander Women
  Life (Basel, Switzerland) · DOI · Europe PMC
• 2026-08
  Fibroblast heterogeneity in Peutz-Jeghers syndrome: identifying the polyp-driving subset<sup>†</sup>
  The Journal of pathology · DOI · Europe PMC
• 2026-08开放获取
  Automatic Conversion of NICE Guidelines to an Executable Computational Model Using Large Language Models
  Learning health systems · DOI · Europe PMC

在中国开展的临床试验 4L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 1

• 招募中NCT06722534
  Celecoxib for Prevention of Progression in Peutz-Jeghers Syndrome
  不适用 · 干预性 · 2025/02/01Air Force Military Medical University, China
  中国研究中心 1 个：Xi'an

中国境外的在招试验 5L2

CT.gov 报告命中 5 项，此处取回并展示最近的 4 项。

• 招募中NCT04095195
  Registry of Subjects at Risk of Pancreatic Cancer
  观察性 · 2019/08/20Associazione Italiana per lo Studio del Pancreas
  意大利
• 招募中NCT03050268
  Familial Investigations of Childhood Cancer Predisposition
  观察性 · 2017/04/06St. Jude Children's Research Hospital
  美国
• 招募中NCT02000089
  The Cancer of the Pancreas Screening-5 CAPS5)Study
  III 期 · 干预性 · 2014/01/06Johns Hopkins University
  美国
• 招募中NCT02775461
  Pancreas Registry and High Risk Registry
  观察性 · 2013/03/01Icahn School of Medicine at Mount Sinai
  美国

外部标识与链接