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 2,073L2

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综述
  Endoscopic Papillectomy for Ampullary Tumors in Older Patients: Balancing Oncologic Benefit and Geriatric Risk
  Digestive endoscopy : official journal of the Japan Gastroenterologica · DOI · Europe PMC
• 2026-08综述
  Anatomical, physiological, and luminal adaptations occurring in an ileoanal pouch: opportunities for improving outcomes
  Inflammatory bowel diseases · DOI · Europe PMC
• 2026-08
  Phase II Trial of Encapsulated Rapamycin to Reduce Polyp Burden Associated with Familial Adenomatous Polyposis
  Clinical cancer research : an official journal of the American Associa · DOI · Europe PMC
• 2026-08
  Positive Predictive Value of Symptoms for Early-Onset Colorectal Cancer
  Cancer epidemiology, biomarkers & prevention : a publication of the Am · DOI · Europe PMC
• 2026-07综述
  Differentiating Sporadic and Familial Adenomatous Polyposis-Associated Congenital Hypertrophy of the Retinal Pigment Epithelium From Congenital Grouped Pigmentation: A Review of Morphologic, Histopathologic, and Multimodal Imaging
  Cureus · DOI · Europe PMC
• 2026-07
  Routine duodenal papillary biopsy enhances detection of duodenal papillary adenoma in familial adenomatous polyposis patients: a prospective cohort study
  British journal of cancer · DOI · Europe PMC
• 2026-07
  Molecular and immunohistochemical characterization of cribriform-morular thyroid carcinoma: insights into its origin and therapeutic targets
  Journal of endocrinological investigation · DOI · Europe PMC
• 2026-07综述
  APC alterations in papillary thyroid carcinoma: molecular mechanisms, clinical implications, and future perspective
  Journal of diabetes and metabolic disorders · DOI · Europe PMC
• 2026-07
  Locally Aggressive Desmoid Tumor With L4-L5 Vertebral Invasion and Progressive Neurological Deficit: A Case Report
  Clinical case reports · DOI · Europe PMC
• 2026-07
  Ketogenic diet mediates intestinal tumorigenesis through lipids not ketones
  Nature · 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
  Progressive intestinal tumor cell plasticity, Myc activation, and loss of Lgr5<sup>+</sup> tumor stem cell lineage commitment upon Wnt depletion
  Science advances · 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
  Cribriform Morular Thyroid Carcinoma: Unreported Cytological Features With Histologic Correlation and Diagnostic Lessons From a Case Lacking Morules
  Diagnostic cytopathology · DOI · Europe PMC
• 2026-07综述
  Surgical Treatment and Postoperative Surveillance for Familial Adenomatous Polyposis
  Anticancer research · DOI · Europe PMC
• 2026-07
  Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines
  European journal of breast health · Europe PMC
• 2026-07
  RETINAL PIGMENT EPITHELIAL TUMORS IN 948 EYES OF 926 PATIENTS
  Retina (Philadelphia, Pa.) · DOI · Europe PMC
• 2026-07随机对照试验开放获取
  Implementation and Effectiveness of an Enhanced Recovery Protocol for Children Undergoing Surgery: The ENRICH-US Stepped-Wedge Cluster-Randomized Trial
  JAMA surgery · DOI · Europe PMC
• 2026-07
  Multiple hybrid pilomatrical/epidermoid cysts with differential nuclear expression of β-catenin as a presenting symptom of familial adenomatous polyposis
  Clinical and experimental dermatology · DOI · Europe PMC
• 2026-06
  Evaluation of ACMG/AMP guidelines for classifying APC variants in Korean patients with suspected familial adenomatous polyposis
  Cancer cell international · 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）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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 23L2

CT.gov 报告命中 23 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
• 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NCT06578637
  Investigation of β-hydroxybutyrate Supplementation as Chemoprevention in Familial Adenomatous Polyposis
  不适用 · 干预性 · 2024/09/20Abramson Cancer Center at Penn Medicine
  美国
• 招募中NCT06545526
  Chemopreventive Effect of Combination of Celecoxib and Metformin in Patients With Familial Adenomatous Polyposis
  III 期 · 干预性 · 2024/08/13Yonsei University
  韩国
• 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

外部标识与链接