系统性肥大细胞增多症

定义 英文原文（暂无中文）

A heterogeneous group of rare, acquired and chronic hematological malignancies related to an abnormal accumulation/proliferation of neoplastic mast cells (MCs) in one or several organs, mainly the bone marrow (BM), associated frequently with skin involvement.

基本事实

遗传方式

不适用

发病年龄

各年龄段

患病率

1-9 / 1 000 000（Italy）

相关基因 6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 18,820L2

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。

• 2026-11
  Evaluation of the Cornea of Dogs With Dry Eye Disease Using Spectral Domain Optical Coherence Tomography
  Veterinary ophthalmology · DOI · Europe PMC
• 2026-10综述开放获取
  Chronic Spontaneous Urticaria and Psychiatric Symptoms: The Blood-Brain Barrier Hypothesis
  Experimental dermatology · DOI · Europe PMC
• 2026-10开放获取
  Altered Inter-Network Functional Integration Underlies Speech Impairment in Parkinson's Disease: A Resting-State fMRI Analysis
  Brain and behavior · DOI · Europe PMC
• 2026-10荟萃分析系统综述综述开放获取
  Comparison Between Skeletally-Anchored and Conventional Maxillary Protraction in Growing Class ΙΙΙ Patients: A Systematic Review and Meta-Analysis
  Clinical and experimental dental research · DOI · Europe PMC
• 2026-10开放获取
  Exploring Cervical Cancer-Associated Vaginal and Cervical Microbiota via 16S rRNA Sequencing
  MicrobiologyOpen · DOI · Europe PMC
• 2026-10开放获取
  Malassezia May Contribute to Basal Cell Carcinoma Development via Inflammatory and Oxidative Stress Pathways
  MicrobiologyOpen · DOI · Europe PMC
• 2026-10开放获取
  Surgical Reconstructive Therapy of Peri-Implantitis via Submerged Versus Non-Submerged Healing: A 2-Year Retrospective Study
  Clinical implant dentistry and related research · DOI · Europe PMC
• 2026-10开放获取
  Machine Learning Prediction of Anterior Open-Bite Development After Stabilization Splint Treatment in Temporomandibular Disorder
  Clinical and experimental dental research · DOI · Europe PMC
• 2026-09病例报告开放获取
  More Than Just a Gut Feeling: Unmasking Systemic Mastocytosis Behind Chronic Gastrointestinal Symptoms in a 2-Patient Case Series
  ACG case reports journal · DOI · Europe PMC
• 2026-09开放获取
  Nano spray-dried powders for efficient pulmonary delivery of proteins: an emphasis on comparisons of derived metrics determined by chapters <601> and <1604>
  Drug delivery · DOI · Europe PMC
• 2026-09开放获取
  Integrated metagenomic and metabolomic analysis identifies severity-specific inflammatory and metabolic signatures in post-stroke depression
  Gut microbes · DOI · Europe PMC
• 2026-09综述开放获取
  Diagnostic accuracy of AI-augmented renal ultrasound for degenerative kidney disorders: a systematic review and meta-analysis
  Future science OA · DOI · Europe PMC
• 2026-09开放获取
  Ultrasound-guided botulinum toxin injection in patients with chronic plantar fasciitis: comparison of plantar fascia origin injection and the babcock method-a randomized controlled trial
  Future science OA · DOI · Europe PMC
• 2026-09病例报告开放获取
  Digital 3D-Printed Surgical Guide for Removal of a Separated Instrument at the Maxillary Sinus Floor and Apical Microsurgery
  Journal of medical cases · DOI · Europe PMC
• 2026-09开放获取
  Laparoscopically guided biopsy of non-macroscopically altered cecocolic lymph nodes in dog cadavers using laparoscopic forceps or core needles
  Veterinary and animal science · DOI · Europe PMC
• 2026-09开放获取
  Evaluation of LLMs for Automated Dental-to-Medical Consult Letter Generation: Comparative Study
  International dental journal · DOI · Europe PMC
• 2026-09开放获取
  Construction of a new predictive model in head and neck squamous cell carcinoma based on the investigation of extracellular matrix-associated genes
  Oncology letters · DOI · Europe PMC
• 2026-09开放获取
  Periodontitis Exacerbates Insulin Resistance via Gut Barrier Dysfunction and TLR4/NF-κB Activation
  International dental journal · DOI · Europe PMC
• 2026-09开放获取
  Haemodynamic effects of selective venoconstriction with centhaquine in spontaneously breathing patients with mixed hypovolaemic-vasodilatory shock
  Experimental physiology · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Bioactive glasses-mediated ion therapy ameliorates hepatic osteodystrophy by reprogramming the liver-bone axis
  Bioactive materials · DOI · Europe PMC

境外已获批用于本病的药物 2L2

欧盟 1 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Ayvakyt欧盟2020-09-24
  avapritinib
  官方记录
• Gleevec美国2006-10-19
  Imatinib mesylate
  官方记录

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 3L2

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NCT07562542
  Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis
  观察性 · 2025/05/19The First Affiliated Hospital of Soochow University
  中国研究中心 1 个：Suzhou

中国境外的在招试验 14L2

CT.gov 报告命中 14 项，此处取回并展示最近的 13 项。

• 尚未开始招募NCT07819396
  Depletion of CD45RA Positive Naive T Cells for the Prevention of Graft Versus Host Disease in Older Patients Undergoing Allogeneic Hematopoietic Cell Transplantation for Acute Leukemia or Myelodysplastic Syndrome
  II 期 · 干预性 · 2027/01/01Fred Hutchinson Cancer Center
  美国
• 尚未开始招募NCT07757893
  Precision Medicine for Indolent Systemic Mastocytosis (PRISM)
  观察性 · 2026/09/09Mayo Clinic
  美国
• 招募中NCT07264959
  An Observational Study in Participants With Indolent Systemic Mastocytosis (ISM)
  观察性 · 2026/04/15Blueprint Medicines Corporation
  美国
• 招募中NCT07255638
  A Non-Interventional Study in Participants With Indolent Systemic Mastocytosis (ISM) in Germany
  观察性 · 2025/12/09Blueprint Medicines Corporation
  德国
• 招募中NCT06748001
  Avapritinib Rollover Study
  IV 期 · 干预性 · 2024/11/28Blueprint Medicines Corporation
  比利时、加拿大、意大利、荷兰、挪威、英国
• 招募中NCT06327685
  Avapritinib With Decitabine in Patients With SM-AHN
  I 期 · 干预性 · 2024/03/13H. Lee Moffitt Cancer Center and Research Institute
  美国
• 招募中NCT07142473
  Mastocytosis From Pediatric Age to Adulthood: Local Registry of Cutaneous and Systemic Mastocytosis
  观察性 · 2024/01/26Fondazione IRCCS Policlinico San Matteo di Pavia
  意大利
• 招募中NCT06210698
  Angioedema Biomarker Research Study
  观察性 · 2024/01/15Foundation For Rare Disease Research
  美国
• 招募中NCT04910685
  (HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis
  II 期、III 期 · 干预性 · 2021/11/30Blueprint Medicines Corporation
  阿根廷、澳大利亚、奥地利、比利时、巴西、哥伦比亚、捷克、法国 等 22 国
• 招募中NCT04996875
  (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis
  II 期 · 干预性 · 2021/11/09Cogent Biosciences, Inc.
  澳大利亚、奥地利、比利时、加拿大、法国、德国、意大利、荷兰 等 14 国
• 招募中NCT01137825
  Registry of Older Patients With Cancer
  观察性 · 2009/09UNC Lineberger Comprehensive Cancer Center
  美国
• 招募中NCT01137643
  Tissue, Blood, and Body Fluid Sample Collection From Patients With Hematologic Cancer
  观察性 · 2009/07UNC Lineberger Comprehensive Cancer Center
  美国
• 可获取（拓展性用药）NCT06915766
  Expanded Access to Bezuclastinib for Patients With NonAdvanced Systemic Mastocytosis or Advanced Systemic Mastocytosis
  拓展性用药Cogent Biosciences, Inc.
  美国

外部标识与链接