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 617L2

2024/08 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。

• 2026-08
  Cold snare polypectomy for 5-9mm small-bowel polyps in patients with Peutz-Jeghers syndrome by double-balloon enteroscopy: a prospective clinical trial
  The American journal of gastroenterology · DOI · Europe PMC
• 2026-07病例报告
  Gynaecomastia in a patient with Peutz-Jeghers syndrome
  BMJ case reports · DOI · Europe PMC
• 2026-07
  Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort
  Journal of pediatric gastroenterology and nutrition · DOI · Europe PMC
• 2026-07综述
  Pediatric Hereditary Polyposis Syndromes: Diagnosis, Surveillance, and Management Across Evolving Guidelines
  Digestive diseases and sciences · DOI · Europe PMC
• 2026-07综述
  [Hereditary cancer predisposition syndromes-significance of gynecological cancers]
  Pathologie (Heidelberg, Germany) · DOI · Europe PMC
• 2026-07
  Correction: follow-up, cancer risk and mortality in Peutz-Jeghers syndrome: data from the PRED-IdF network
  European journal of human genetics : EJHG · DOI · Europe PMC
• 2026-07综述
  Peutz-Jeghers Syndrome and lung cancer: does the risk meet the threshold for lung cancer screening?
  Familial cancer · DOI · Europe PMC
• 2026-06病例报告
  Adult intussusception caused by solitary intestinal Peutz-Jeghers polyp mimicking a malignant colon cancer
  Journal of surgical case reports · DOI · Europe PMC
• 2026-06
  Malignant transformation risk and management dilemmas of atypical lobular endocervical glandular hyperplasia: A retrospective cohort study comparing Peutz-Jeghers syndrome versus sporadic cases
  Gynecologic oncology · DOI · Europe PMC
• 2026-06
  Artificial intelligence-integrated nanotherapeutics for rare Peutz-Jeghers syndrome hamartoma-induced obstructions: latest clearance strategies
  European journal of gastroenterology & hepatology · DOI · Europe PMC
• 2026-06
  Pyloric botulinum toxin injection and single-port laparoscopic intragastric surgery for bulbus hamartoma
  Journal of minimal access surgery · DOI · Europe PMC
• 2026-06病例报告
  Jejunal Adenomatous Polyp Presenting as Intussusception in Peutz-Jeghers Syndrome With von Hippel-Lindau (VHL) Mutation Carrier Status
  Cureus · DOI · Europe PMC
• 2026-06开放获取
  Exploring associations between epidemiological risk factors and colorectal cancer in Oman: a case-control study
  BMJ open · DOI · Europe PMC
• 2026-06
  Endoscopic resection of a solitary Peutz-Jeghers type polyp in the duodenum without features of Peutz-Jeghers syndrome
  Clinical endoscopy · DOI · Europe PMC
• 2026-06
  LKB1 attenuates the transport activity of GLUT1 by regulating the alternative splicing of PKM1/PKM2 in cervical cancer
  Journal of gynecologic oncology · DOI · Europe PMC
• 2026-06病例报告
  Multiple Transient Idiopathic Small Bowel Intussusceptions in an Adult: A Rare Intraoperative Finding
  Cureus · DOI · Europe PMC
• 2026-06病例报告
  Peutz-Jeghers Syndrome With Incidental Legg-Calvé-Perthes Disease: A Rare Radiological Association in a Pediatric Patient
  Cureus · DOI · Europe PMC
• 2026-06开放获取
  Clinical manifestations and ultrasonographic features of lobular endocervical glandular hyperplasia: a retrospective study of 135 patients
  Annals of medicine · DOI · Europe PMC
• 2026-06综述开放获取
  mTOR Substrate Phosphorylation in Growth Control: An Update
  Cancers
• 2026-06综述开放获取
  Sex and Gender Differences in Patients with Gastric Cancer: A Systematic Review
  Journal of clinical medicine

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