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 2,225L2

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病例报告
  Multidisciplinary Management of the Rare Coexistence of Multiple Endocrine Neoplasia Type 1 and Chronic Thromboembolic Pulmonary Hypertension: A Case Report
  Cureus · DOI · Europe PMC
• 2026-08
  Surgical Morbidity and Short-Term Oncologic Status after Prophylactic-Intent Thyroidectomy in a Cohort of Children with MEN2 from the Multicenter GTE ENDOCAN-RENATEN Study
  Thyroid : official journal of the American Thyroid Association · DOI · Europe PMC
• 2026-08病例报告
  Cutaneous lichen amyloidosis in multiple endocrine neoplasia type 2A
  JCEM case reports · DOI · Europe PMC
• 2026-08病例报告
  [Multiple endocrine neoplasia presenting initially as acute pulmonary thromboembolism: a case report]
  Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chine · DOI · Europe PMC
• 2026-08
  Safety of glucagon-like peptide-1 receptor agonists in neuroendocrine neoplasms
  European journal of endocrinology · DOI · Europe PMC
• 2026-07病例报告
  Intrathyroidal parathyroid carcinoma in a patient with multiple endocrine neoplasia type 1
  JCEM case reports · DOI · Europe PMC
• 2026-07
  New insights into solitary bronchial mucosal neuroma: A case report and literature review
  Histology and histopathology · DOI · Europe PMC
• 2026-07
  A case report of non-syndromic colonic ganglioneuroma in a patient with juvenile polyposis
  JPGN reports · DOI · Europe PMC
• 2026-07
  A novel pathogenic MEN1 variant in a three-member family with multiple endocrine neoplasia type 1
  Endokrynologia Polska · DOI · Europe PMC
• 2026-07
  Pathogenic mobile element insertion in the &lt;i&gt;MEN1&lt;/i&gt; gene mimicking a deletion in MLPA: characterisation by long-read sequencing
  Journal of medical genetics · DOI · Europe PMC
• 2026-07
  Genetic factors associated with thymic tumors in patients with MEN1: a nested case-control study in the GTE/AFCE cohort
  Journal of the Endocrine Society · DOI · Europe PMC
• 2026-07
  A multistakeholder call for belzutifan biomarker data in advanced pheochromocytoma and paraganglioma
  Trends in endocrinology and metabolism: TEM · DOI · Europe PMC
• 2026-07病例报告
  Calcified liver metastases from medullary thyroid carcinoma in a Multiple Endocrine Neoplasia Type 2A patient
  Radiology case reports · DOI · Europe PMC
• 2026-07
  Upregulation of Somatostatin Receptor Expression in Lactating Breast Shown in &lt;sup&gt;99m&lt;/sup&gt;Tc-HYNIC-TOC Scintigraphy
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-07
  Coexistence of Multiple Endocrine Neoplasia Type 2B and Centri-Acinar Emphysema With Alpha-1 Antitrypsin Deficiency: A Case Report
  Respirology case reports · DOI · Europe PMC
• 2026-07
  Distal pancreatectomy for neuroendocrine neoplasms in patients with multiple endocrine neoplasia type 1
  Journal of visceral surgery · DOI · Europe PMC
• 2026-07
  A Comparative Cross-sectional Study Assessing the Readability of ChatGPT and UpToDate Content on Multiple Endocrine Neoplasia Syndromes
  Annals of African medicine · DOI · Europe PMC
• 2026-07开放获取
  Characteristics, management, and outcomes of patients with VIPoma-A retrospective analysis of the ENETS database
  Journal of neuroendocrinology · DOI · Europe PMC
• 2026-07综述
  FROM DISCOVERY SCIENCE TO THE CLINIC - HERITABLE ENDOCRINE CANCERS AND RELATED DISORDERS: Functional imaging in hereditary endocrine neoplasms: evolving modalities and clinical implications
  Endocrine-related cancer · DOI · Europe PMC
• 2026-07
  Health-related quality of life in children with multiple endocrine neoplasia (MEN) and their siblings
  The Journal of clinical endocrinology and metabolism · 被引 1 · DOI · Europe PMC

在中国开展的临床试验 135L2

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 48

• 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NCT06540937
  Phase II Clinical Study of Leflunomide in the Treatment of MEN-1 Neuroendocrine Tumor
  II 期 · 干预性 · 2020/07/01Cancer Institute and Hospital, Chinese Academy of Medical Sciences
  中国研究中心 1 个：Beijing
• 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NCT06224387
  CTS2190 Phase I /II Clinical Study in Patients
  I 期、II 期 · 干预性 · 2023/06/26CytosinLab Therapeutics Co., Ltd.
  中国研究中心 2 个：Hangzhou、Luoyang
• 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

另有 23 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
• 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
• 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NCT07764744
  Ovarian Cancer Liquid Biopsy for Early Assessment & Detection in Individuals With BRCA1/2 Pathogenic Variants
  不适用 · 干预性 · 2026/08Weill Medical College of Cornell University
  美国
• 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NCT07693894
  DISARM Clinical Study B: Evaluation of Innovative Ovarian Cancer Biomarker Assays
  观察性 · 2026/07National and Kapodistrian University of Athens
• 尚未开始招募NCT06822751
  FOsfomycin for Male Urinary Tract Infection
  III 期 · 干预性 · 2026/07University Hospital, Rouen
  法国
• 招募中NCT06801899
  ToPanc Trial: Survival After Total Versus Partial Pancreaticoduodenectomy for Adenocarcinoma of the Pancreatic Head, Distal Cholangiocarcinoma, and Ampullary Cancer
  不适用 · 干预性 · 2026/06/01Insel Gruppe AG, University Hospital Bern
  德国、瑞士
• 招募中NCT07604571
  Study of IEV407 as Single Agent or in Combination in Patients With Advanced HR+/HER2- Breast Cancer
  I 期 · 干预性 · 2026/05/28Novartis Pharmaceuticals
  日本、新加坡、美国

外部标识与链接