多发性内分泌肿瘤

定义

多发性内分泌肿瘤(MEN)是一组罕见的遗传性癌症综合征，以两个或两个以上内分泌腺肿瘤的发展为特征，有时还伴有其他组织或器官的肿瘤发生。

别名

MEN

基本事实

遗传方式

常染色体显性、不适用

发病年龄

各年龄段

患病率

<1 / 1 000 000（Ireland）

相关基因 5来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 2,396L2

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
  Analysis of the clinical profile of multiple endocrine neoplasia syndromes and the association with other tumors
  Endocrine practice : official journal of the American College of Endoc · DOI · Europe PMC
• 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
• 2026-10开放获取
  Prolactinomas in the transition from adolescence to young adulthood: A multicentre, retrospective study from the TALENT group
  Journal of neuroendocrinology · 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
• 2026-09
  Prophylactic thyroidectomy in pediatric multiple endocrine neoplasia type 2: A single-institution case series
  International journal of pediatric otorhinolaryngology · DOI · Europe PMC
• 2026-09病例报告
  Solitary circumscribed neuroma of the mucocutaneous eyelid margin
  BMJ case reports · DOI · Europe PMC
• 2026-09病例报告开放获取
  Familial acromegaly with a novel PRKAR1A splice-acceptor variant and marked intrafamilial phenotypic variability
  JCEM case reports
• 2026-09病例报告开放获取
  Silent pheochromocytoma presenting as refractory hyperglycemia without classic adrenergic symptoms
  JCEM case reports · DOI · Europe PMC
• 2026-09病例报告开放获取
  Phenotype-driven cascade screening in a Syrian family with clinically consistent multiple endocrine neoplasia type 2A
  JCEM case reports · 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
  Syndromic primary hyperparathyroidism
  Journal of visceral surgery · DOI · Europe PMC
• 2026-09开放获取
  The Diagnostic Accuracy of [&lt;sup&gt;18&lt;/sup&gt;F]Fluorocholine PET/CT for the Preoperative Localization of Hyperfunctioning Parathyroid Glands
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-09开放获取
  Comprehensive Clinicopathologic, Immunohistochemical, and Genomic Profiling of Sporadic Ampullary Somatostatin-producing D-cell Neuroendocrine Tumors Identifies Recurrent HRAS Hotspot Mutations
  Endocrine pathology · DOI · Europe PMC
• 2026-09综述开放获取
  Growth hormone-releasing hormone, growth hormone, and neuroendocrine tumors
  Journal of clinical & translational endocrinology · DOI · Europe PMC
• 2026-09综述开放获取
  Biomarkers and Emerging Approaches in Gastroenteropancreatic Neuroendocrine Neoplasms (GEP-NEN): Current Evidence and Future Directions
  Cancers · DOI · Europe PMC
• 2026-09开放获取
  [A combination of endogenous hypercortisolism and primary hyperparathyroidism: clinical and genetic characteristics]
  Problemy endokrinologii · DOI · Europe PMC
• 2026-09
  Somatostatin Receptor-Expressing Hibernoma Mimicking Malignancy on SSTR-PET in MEN1: A Diagnostic Pitfall
  Clinical nuclear medicine · DOI · Europe PMC
• 2026-09综述
  C-Cell Lesions and Medullary Thyroid Carcinoma: A Review
  Modern pathology : an official journal of the United States and Canadi · DOI · Europe PMC
• 2026-09
  Association Between Proton Pump Inhibitor Use and Gastric Neuroendocrine Neoplasms in Autoimmune Gastritis: A Real-World Propensity Score-Matched Study From the Autoimmune gastRitis Italian netwOrk Study grOup
  Alimentary pharmacology & therapeutics · 被引 2 · DOI · Europe PMC
• 2026-09开放获取
  The Functional Side of Multiple Endocrine Neoplasia Type 1-Associated Adrenal Disease: Mild Autonomous Cortisol Secretion
  Diseases (Basel, Switzerland) · DOI · Europe PMC

在中国开展的临床试验 138L2

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 49

• 招募中NCT03093116
  A Study of Repotrectinib (TPX-0005) in Patients With Advanced Solid Tumors Harboring ALK, ROS1, or NTRK1-3 Rearrangements
  I 期、II 期 · 干预性 · 2017/03/07Turning Point Therapeutics, Inc.
  中国研究中心 31 个：Beijing、Changchun、Changsha、Chengdu、Chongqing、Daping 等 23 地
• 招募中NCT05406999
  Neoadjuvant Intense Endocrine Therapy for High Risk and Locally Advanced Prostate Cancer
  II 期 · 干预性 · 2020/02/01The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
  中国研究中心 1 个：Nanjing
• 招募中NCT04686682
  A First-in-Human, JAB-8263 in Adult Patients With Advanced Tumors
  I 期、II 期 · 干预性 · 2021/05/07Jacobio Pharmaceuticals Co., Ltd.
  中国研究中心 1 个：Tianjin
• 招募中NCT04924075
  Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
  II 期 · 干预性 · 2021/08/12Merck Sharp & Dohme LLC
  中国研究中心 4 个：Beijing、Chengdu、Guangzhou、Shanghai
• 招募中NCT04520074
  Adjuvant Chemotherapy of Three-step Regimen in BRCA1/2 Wide Type Ovarian Cancer (ACTS-2)
  III 期 · 干预性 · 2021/10/08Fudan University
  中国研究中心 1 个：Shanghai
• 招募中NCT05123482
  A Phase I/IIa Study of AZD8205 Given Alone or Combined, in Participants With Advanced/Metastatic Solid Malignancies
  I 期、II 期 · 干预性 · 2021/10/18AstraZeneca
  中国研究中心 6 个：Beijing、Changsha、Chongqing、Guangzhou、Kunming、Shandong
• 招募中NCT04921527
  Chiauranib Plus Weekly Paclitaxel in Patients with Platinum-refractory or Platinum-resistant Recurrent Ovarian Cancer
  III 期 · 干预性 · 2021/12/20Chipscreen Biosciences, Ltd.
  中国研究中心 1 个：Shanghai
• 招募中NCT05251883
  A Study to Analyze Data on Metastatic Ovarian Cancer Using Multi-omics
  观察性 · 2022/01/01Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
  中国研究中心 1 个：Guangzhou
• 招募中NCT05236686
  Survival Effect of Hepato-celiac Lymphadenectomy In Primary or Relapsed Ovarian Cancer
  不适用 · 干预性 · 2022/02/15Shanghai Gynecologic Oncology Group
  中国研究中心 1 个：Shanghai
• 招募中NCT06286631
  Prediction of Lymph Node Metastasis in Patients With Thyroid Malignancy by a New Scale
  观察性 · 2023/05/01Second Affiliated Hospital of Xi'an Jiaotong University
  中国研究中心 1 个：Xi'an
• 招募中NCT05803018
  A Study of BL-B01D1 in Patients With Multiple Solid Tumors, Including Recurrent or Metastatic Gynecological Malignancies
  I 期、II 期 · 干预性 · 2023/06/25Sichuan Baili Pharmaceutical Co., Ltd.
  中国研究中心 1 个：Shanghai
• 招募中NCT06249308
  Liquid Biopsy-based Early Detection of Ovarian Cancer: a Proof-of-concept Study ( PROFOUND-OC )
  观察性 · 2023/12/18Fudan University
  中国研究中心 3 个：Guangzhou、Shanghai、Shenyang
• 招募中NCT06587789
  Ribociclib in Combination With Adjuvant Endocrine Therapy for Patients With Early High-risk HR+HER2- Breast Cancer
  观察性 · 2024/01/01Second Affiliated Hospital, Zhejiang University, School of Medicine
  中国研究中心 1 个：Hangzhou
• 招募中NCT06662006
  Nal-IRI/5-FU/LV Chemotherapy Combined With PD-L1 Inhibitor and Multi-target Anti-angiogenic Small Molecule±SBRT as Second-line Therapy in Metastatic Pancreatic Cancer Patients
  II 期 · 干预性 · 2024/03/01The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical School
  中国研究中心 1 个：Nanjing
• 招募中NCT06767813
  Clinical Study of TQB2868 Injection Combined With Anlotinib Capsule and Chemotherapy in the First-line Treatment of Metastatic Pancreatic Neoplasms
  II 期 · 干预性 · 2024/03/19Chia Tai Tianqing Pharmaceutical Group Nanjing Shunxin Pharmaceutical Co., Ltd.
  中国研究中心 7 个：Nanjing、Shanghai、Suzhou、Wenzhou、Zhengzhou
• 招募中NCT06386146
  JAB-30355 in Patients With Advanced Solid Tumors Harboring TP53 Y220C Mutation
  I 期、II 期 · 干预性 · 2024/07/24Jacobio Pharmaceuticals Co., Ltd.
  中国研究中心 6 个：Beijing、Guangzhou、Jinan、Shanghai、Shenyang、Zhengzhou
• 尚未开始招募NCT06495749
  Early Diagnosis of Pancreatic Cancer Via Deciphering Multi-modal Immunological Signatures
  观察性 · 2024/08/01Zhejiang University
  中国研究中心 2 个：Hangzhou
• 尚未开始招募NCT06531291
  Surufatinib Combined With Serplulimab and Standard Chemotherapy as First-line Treatment in Advanced Solid Tumors With Neuroendocrine Differentiation
  II 期 · 干预性 · 2024/08/10RenJi Hospital
  中国研究中心 1 个：Shanghai
• 招募中NCT06632886
  AI-Assisted Non-Contrast CT for Multi-Cancer Screening
  不适用 · 干预性 · 2024/10/07Guo ShiWei
  中国研究中心 1 个：Shanghai
• 招募中NCT07433283
  Carbon Nanoparticle-Loaded Iron in the Treatment of Advanced Solid Tumor
  I 期、II 期 · 干预性 · 2024/11/12Sichuan Enray Pharmaceutical Sciences Company
  中国研究中心 9 个：Beijing、Chengdu、Chongqing、Fuzhou、Haikou、Heilongjiang 等 9 地
• 招募中NCT06560112
  An Exploratory, Multi-cohort Phase II Study of Combination Therapy With AK104 and AK112 for Recurrent Ovarian Cancer
  II 期 · 干预性 · 2024/11/12Akeso
  中国研究中心 1 个：Shanghai
• 招募中NCT06735326
  Fluzoparib With or Without Bevacizumab for Neoadjuvant Therapy in Advanced Ovarian Cancer
  II 期 · 干预性 · 2024/11/27Qilu Hospital of Shandong University
  中国研究中心 1 个：Jinan
• 招募中NCT06684327
  Multi-cohort, Single-arm Phase II Study of Albumin-paclitaxel, Ifosfamide, and Cisplatin in the Treatment of Rare Advanced Tumors
  II 期 · 干预性 · 2024/11/30Fudan University
  中国研究中心 1 个：Shanghai
• 尚未开始招募NCT06759090
  Metronomic Capecitabine with Camrelizumab and Apatinib Mesylate for Treatment of Advanced Pancreatic Cancer
  II 期 · 干预性 · 2025/01/15Zhejiang University
  中国研究中心 1 个：Hangzhou
• 招募中NCT07571096
  Construction of a Multi-dimensional Risk Assessment System: a Clinical Study of Polycystic Ovary Syndrome Complicated With Thrombophilia
  观察性 · 2025/03/04Guangdong Women and Children Hospital
  中国研究中心 1 个：Guangzhou

另有 24 项未列出。

中国境外的在招试验 159L2

CT.gov 报告命中 159 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07804017
  Exhaled Breath Electronic Nose for Multi-Disease Risk Prescreening
  观察性 · 2026/09/01The First Affiliated Hospital of Guangzhou Medical University
• 尚未开始招募NCT07671937
  INtegrating Systematic PatIent-Reported Evaluations in Multi-Disciplinary Tumor Boards: The INSPIRE Study
  不适用 · 干预性 · 2026/09/01University of Alabama at Birmingham
  美国
• 尚未开始招募NCT07689955
  A Phase-II Clinical Trial of Radiotherapy to the Coeliac Plexus to Help Pain in Advanced Pancreatic Cancer
  II 期 · 干预性 · 2026/09Royal Marsden NHS Foundation Trust
• 招募中NCT07665515
  Study of CryptiVax-1001 in Maintenance Setting for Advanced Serous Ovarian, Fallopian Tube, or Primary Peritoneal Cancer
  I 期 · 干预性 · 2026/09Epitopea Ltd
  英国
• 尚未开始招募NCT07814872
  A Preregistered Multi-Cohort Evaluation of the FATHOM AI System for Molecular Testing Prioritization to Support Clinical Trial Enrollment
  观察性 · 2026/09Harvard Medical School (HMS and HSDM)
  美国
• 尚未开始招募NCT07787156
  Reach and Engagement of GENetic Education, Risk Assessment, and TEsting Feasibility Trial
  不适用 · 干预性 · 2026/09Brigham and Women's Hospital
  美国
• 尚未开始招募NCT07764744
  Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants
  不适用 · 干预性 · 2026/09Weill Medical College of Cornell University
  美国
• 尚未开始招募NCT07469202
  CYTALUX Dose Extension Study
  IV 期 · 干预性 · 2026/08/15On Target Laboratories, LLC
• 尚未开始招募NCT07532356
  Integrating Tumor Genomics and Urinary Exosomal Proteomics to Establish a Multi-Layer Biomarker Framework for Early Risk Stratification and Post-Treatment Surveillance in Fresh Thyroid Cancer Patients
  观察性 · 2026/08/01National Taiwan University Hospital
• 尚未开始招募NCT07687264
  Assessment of Metabolic Changes in Response to Glcuose Intake in Women With Polyendocrine Metabolic Ovarian Syndrome (PMOS)
  不适用 · 干预性 · 2026/08/01University of Zurich
  瑞士
• 尚未开始招募NCT07734948
  Cardiovascular Effects of Purple-Fleshed Potatoes
  不适用 · 干预性 · 2026/08/01Instituto de Investigacion Nutricional, Peru
• 尚未开始招募NCT07705074
  FAPI PET Imaging - An Exploratory Study
  I 期、II 期 · 干预性 · 2026/08Martin Huellner
  瑞士
• 尚未开始招募NCT06549751
  MT-601 Administered To Patients With Locally Advanced Unresectable or Metastatic Pancreatic Cancer
  I 期 · 干预性 · 2026/07/16Marker Therapeutics, Inc.
  美国
• 尚未开始招募NCT07670312
  Evaluation of XYA02 in Patients With Advanced Solid Tumors
  I 期、II 期 · 干预性 · 2026/07/15XYone Therapeutics, Inc
  澳大利亚
• 尚未开始招募NCT06822751
  FOsfomycin for Male Urinary Tract Infection
  III 期 · 干预性 · 2026/07University Hospital, Rouen
  法国

外部标识与链接