家族性腺瘤性息肉病

定义 英文原文（暂无中文）

A rare intestinal polyposis syndrome characterized by the development of up to hundreds to thousands of adenomas in the large bowel. It is a multi-system disorder with important extracolonic manifestations.

别名

结直肠腺瘤性息肉病

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

成年期

患病率

1-9 / 100 000

相关基因 1

临床表型 45

近两年的全球研究 2,225L2

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荟萃分析系统综述开放获取
  Enhanced recovery after colorectal surgery in patients with inflammatory bowel disease to reduce hospital length of stay: A systematic review and meta-analysis
  Colorectal disease : the official journal of the Association of Colopr · DOI · Europe PMC
• 2026-10
  Support for Disclosure of Hereditary Tumor Risk to Children and Adolescents: A Scoping Review
  Japan journal of nursing science : JJNS · DOI · Europe PMC
• 2026-10综述
  Approaches to thyroid nodules in paediatric cancer predisposition syndromes
  European thyroid journal · DOI · Europe PMC
• 2026-09
  Invited Commentary on: Comparison of the outcomes of ileal pouch-anal anastomosis and ileorectal anastomosis for patients with familial adenomatous polyposis: A systematic review and meta-analysis
  Journal of gastrointestinal surgery : official journal of the Society · DOI · Europe PMC
• 2026-09开放获取
  Development of an Interpretable Triage Tool for Colorectal Polyp Risk Stratification Within a Population-Based Screening Program: Machine Learning Approach
  JMIR medical informatics · DOI · Europe PMC
• 2026-09开放获取
  Rapidly Progressive Metastatic Sertoli Cell Tumor Associated With an Adenomatous Polyposis Coli Mutation: A Case Report and Literature Review
  IJU case reports · DOI · Europe PMC
• 2026-09综述开放获取
  Engineering Functional Biomaterials for Targeted and Localized Cancer Drug Delivery: A Structure-Property-Performance Design Perspective
  Pharmaceuticals (Basel, Switzerland) · DOI · Europe PMC
• 2026-09
  Molecular surgery in colorectal cancer: Integrating genomics into operative decision-making
  European journal of surgical oncology : the journal of the European So · DOI · Europe PMC
• 2026-09开放获取
  Somatic Mutation Profile in Normal Tissue Adjacent to Tumor in Colorectal Carcinoma Patients: Functional Effect on Gene Expression and Potential Implications for Precision Medicine
  Cancers · DOI · Europe PMC
• 2026-09
  Life expectancy and changing causes of mortality in familial adenomatous polyposis (FAP)
  The American journal of gastroenterology · DOI · Europe PMC
• 2026-09开放获取
  Levofloxacin enhances 5-fluorouracil efficacy in colorectal cancer by activating the DDR-TP53-mitochondrial apoptosis axis
  iScience
• 2026-09综述开放获取
  Villous Architecture in Colorectal Adenomas: Molecular Pathogenesis, Epithelial Plasticity, and Malignant Risk
  Cells · DOI · Europe PMC
• 2026-09开放获取
  Health technology assessment of robotic surgery for rectal cancer in China: protocol for a nationally multicentre prospective cohort study
  BMJ open · DOI · Europe PMC
• 2026-09
  Risk of desmoid tumor based on APC pathogenic variant location and surgical history in familial adenomatous polyposis: a U.S. community cohort study
  Familial cancer · DOI · Europe PMC
• 2026-09病例报告开放获取
  Concomitant parathyroid hormone-secreting oncocytic adrenocortical carcinoma and parathyroid adenoma
  JCEM case reports · DOI · Europe PMC
• 2026-09综述开放获取
  Essential Updates in the Surgical Management of Inflammatory Bowel Disease: Current Topics From 2024 to Mid‐2026
  Annals of gastroenterological surgery
• 2026-09综述开放获取
  Role of tumor necrosis factor receptor superfamily member 19 in cancer: Diverse functions and therapeutic potential (Review)
  Oncology letters · DOI · Europe PMC
• 2026-09开放获取
  Intensive Endoscopic Resection for Downstaging of Superficial Non-ampullary Duodenal Epithelial Tumor Burden in Familial Adenomatous Polyposis: A Single-center Retrospective Study on Long-term Clinical Outcome
  DEN open · DOI · Europe PMC
• 2026-09综述开放获取
  Bridging pediatric and adult neuro-oncology: Insights into adolescents and young adults (AYA) central nervous system tumors
  Neurotherapeutics : the journal of the American Society for Experiment · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

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 2

• 尚未开始招募NCT04531930
  Colorectal Adenoma Canceration in FAP
  观察性 · 2020/10/01Changhai Hospital
  中国研究中心 1 个：Shanghai
• 仅邀请入组NCT06649825
  Efficacy of Vitamin B1 in Familial Adenomatous Polyposis Patients.
  不适用 · 干预性 · 2024/01/08Shanghai Zhongshan Hospital
  中国研究中心 1 个：Shanghai

中国境外的在招试验 22L2

CT.gov 报告命中 22 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07729371
  A Safety Study of ST316 in Participants With Familial Adenomatous Polyposis (FAP).
  I 期 · 干预性 · 2027/01/04Sapience Therapeutics
• 尚未开始招募NCT06308445
  Safety Study for the Use of Rapamycin in Children With Familial Adenomatous Polyposis
  II 期 · 干预性 · 2026/09/01University Hospital, Toulouse
  法国
• 招募中NCT07726771
  Evaluation of the Ileo-anal Pouch in FAP (ENDOPOL)
  不适用 · 干预性 · 2026/07/09London North West Healthcare NHS Trust
  英国
• 招募中NCT06641310
  Trial of Exercise Therapy in Familial Adenomatous Polyp (FAP)
  不适用 · 干预性 · 2026/05/13University of Michigan Rogel Cancer Center
  美国
• 招募中NCT06557733
  An Investigational Drug (TPST-1495) in Patients With Familial Adenomatous Polyposis
  II 期 · 干预性 · 2026/03/31National Cancer Institute (NCI)
  美国
• 尚未开始招募NCT06881303
  Impact of Prior Identification and Education of Patients Requiring a Digestive Stoma for Fecal Diversion
  不适用 · 干预性 · 2026/03/01Assistance Publique Hopitaux De Marseille
  法国
• 招募中NCT07463599
  Safety and Efficacy of Tegavivint in Patients With Metastatic Colorectal Carcinoma
  I 期、II 期 · 干预性 · 2026/02/17HonorHealth Research Institute
  美国
• 招募中NCT05630794
  Testing for Safety and Colorectal Cancer Preventive Effects of ONC201
  I 期 · 干预性 · 2025/10/06National Cancer Institute (NCI)
  美国
• 招募中NCT06950385
  Phase 3 Trial of eRapa in Patients With Familial Adenomatous Polyposis
  III 期 · 干预性 · 2025/07/18Rapamycin Holdings Inc.
  丹麦、德国、意大利、荷兰、Puerto Rico、西班牙、美国
• 招募中NCT06538402
  Ten Versus Fifteen Centimeter Pouch in IPAA Surgery
  不适用 · 干预性 · 2025/07/03Odense University Hospital
  丹麦
• 招募中NCT07066046
  Artificial Intelligence-assisted Colonoscopy in the Detection and Characterization of Colorectal Lesions
  不适用 · 干预性 · 2025/02/01Instituto do Cancer do Estado de São Paulo
  巴西
• 招募中NCT06614738
  Microbial and Environmental Factors Associated With Polyps Development in Familial Adenomatous Polyposis (MicrobEnvironment in FAP)
  观察性 · 2024/12/17Hospices Civils de Lyon
  法国
• 招募中NCT05552755
  Evaluate REC-4881 in Participants With Familial Adenomatous Polyposis (FAP)
  I 期、II 期 · 干预性 · 2023/07/10Recursion Pharmaceuticals Inc.
  美国
• 招募中NCT05919264
  FOG-001 in Locally Advanced or Metastatic Solid Tumors
  I 期、II 期 · 干预性 · 2023/05/23Parabilis Medicines, Inc.
  澳大利亚、美国
• 招募中NCT04678011
  A Personalized Surveillance and Intervention Protocol for Patients With Familial Adenomatous Polyposis That Have Undergone (Procto)Colectomy
  观察性 · 2021/11/24Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
  荷兰、美国

外部标识与链接