系统性肥大细胞增多症
Systemic mastocytosis
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。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ASXL1 | ASXL transcriptional regulator 1 | ORPHA:98849 |
| CBL | Cbl proto-oncogene | ORPHA:98850 |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | ORPHA:98849 |
| RUNX1 | RUNX family transcription factor 1 | ORPHA:98850 |
| SRSF2 | serine and arginine rich splicing factor 2 | ORPHA:98849 |
| TET2 | tet methylcytosine dioxygenase 2 | ORPHA:98849 |
近两年的全球研究 16,564L2
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Chronic Myelomonocytic Leukemia: History, Pathobiology, Diagnostic Controversies, and Evolving Classification
- 2026-08Effect of Porphyromonas gingivalis Infection on PGC-1α in Skeletal Muscle After Endurance Training In Vivo
- 2026-07Validity and reliability of the smile perception scale in Turkish children aged 8-10 years
- 2026-07综述The enigma of limited mouth opening: Implications for the clinician and practice
- 2026-07Reverse-Engineered Lipid Nanoparticles Harness Protein Corona Formation for Cytokine Sequestration and Combination Immunomodulatory Therapy
- 2026-07综述Cardiac Imaging Phenotypes in Systemic Inflammatory Disorders and Perspectives: What Have We Learned and Where Do We Need to Go Next?
- 2026-07Non-immunoglobulin E-mediated mechanisms of anaphylaxis
- 2026-07综述Impact of systemic diseases on periodontal remodeling: Mechanisms, mediators, and clinical relevance
- 2026-07综述Emerging bioactive microneedle platforms for disease management: From cutaneous disorders to systemic therapeutics
- 2026-07<i>Lactobacillus johnsonii</i> mediates the protective effects of pristimerin against ulcerative colitis and concomitant liver injury through remodeling hepatic lipid metabolism via LXRα-SCD1 axis
- 2026-07Isolation and Culture of Mouse Brain Microvascular Endothelial Cells
- 2026-07综述Tear biomarkers in veterinary species: An updated review with special focus on dogs and cats
- 2026-07Computational formulation of a broad-spectrum multi-epitope vaccine against bacterial pathogens implicated in periodontal and systemic diseases
- 2026-07综述[Cutaneous and skeletal manifestations of systemic diseases: SKIBO]
- 2026-07综述Mechanisms of metabolic dysfunction-associated steatohepatitis progression induced by periodontitis and therapeutic strategies
- 2026-07病例报告Anesthetic Management of an Elective Cesarean Section in a Patient With Systemic Mastocytosis and Latex Allergy, Complicated by Incidental Intraoperative Wolff-Parkinson-White Pre-excitation: A Case Report
- 2026-07Systemic Metallosis Mimicking Malignancy on [18F]FDG PET/CT
- 2026-06综述Is <i>Fusobacterium nucleatum</i> the key mediator between oral infections and systemic diseases? Mechanistic insights and therapeutic implications
- 2026-06病例报告Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock
- 2026-06综述Musculoskeletal abnormalities: A clue to systemic diseases
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。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
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 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NCT07562542Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis中国研究中心 1 个：Suzhou
其他状态的试验（2 项）
- 状态未知NCT05504408Observational Study for the Evaluation of Incidence of Systemic Mastocytosis in t(8;21) Acute Myeloid Leukemia中国研究中心 1 个：Suzhou
- 状态未知NCT06013683A Registry for Patients With Systemic Mastocytosis in China中国研究中心 1 个：Suzhou
中国境外的在招试验 13L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国9意大利4德国3比利时3荷兰3挪威3英国3加拿大2澳大利亚2奥地利2法国2波兰2西班牙2瑞士2另有 9 个国家/地区
CT.gov 报告命中 13 项，此处取回并展示最近的 12 项。
- 尚未开始招募NCT07757893Precision Medicine for Indolent Systemic Mastocytosis (PRISM)美国
- 招募中NCT07264959An Observational Study in Participants With Indolent Systemic Mastocytosis (ISM)美国
- 招募中NCT07255638A Non-Interventional Study in Participants With Indolent Systemic Mastocytosis (ISM) in Germany德国
- 招募中NCT06748001Avapritinib Rollover Study比利时、加拿大、意大利、荷兰、挪威、英国
- 招募中NCT06327685Avapritinib With Decitabine in Patients With SM-AHN美国
- 招募中NCT07142473Mastocytosis From Pediatric Age to Adulthood: Local Registry of Cutaneous and Systemic Mastocytosis意大利
- 招募中NCT04910685(HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis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NCT03779854Naive T Cell Depletion for Preventing Chronic Graft-versus-Host Disease in Children and Young Adults With Blood Cancers Undergoing Donor Stem Cell Transplant美国
- 招募中NCT01137825Registry of Older Patients With Cancer美国
- 招募中NCT01137643Tissue, Blood, and Body Fluid Sample Collection From Patients With Hematologic Cancer美国
- 可获取（拓展性用药）NCT06915766Expanded Access to Bezuclastinib for Patients With NonAdvanced Systemic Mastocytosis or Advanced Systemic Mastocytosis美国
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）