原发性骨髓纤维化
Primary myelofibrosis
定义 英文原文（暂无中文）
A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.
别名
骨髓纤维化伴髓样化生
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| JAK2 | Janus kinase 2 | Disease-causing somatic mutation(s) in |
| MPL | MPL proto-oncogene, thrombopoietin receptor | Disease-causing somatic mutation(s) in |
| TET2 | tet methylcytosine dioxygenase 2 | Disease-causing somatic mutation(s) in |
| CALR | calreticulin | Disease-causing somatic mutation(s) in |
临床表型 36
极常见 99–80%1
- 骨髓细胞形态异常 HP:0005561
常见 79–30%10
- 巨核细胞形态异常 HP:0012143
- 血液和造血组织异常 HP:0001871
- 贫血 HP:0001903
- 全身性症状 HP:0025142
- 疲乏 HP:0012378
- 肝脏肿大 HP:0002240
- 肝脾肿大 HP:0001433
- 苍白圈 HP:0000980
- 脾肿大 HP:0001744
- 血小板减少症 HP:0001873
偶见 29–5%20
- 异常出血 HP:0001892
- 异常血栓形成 HP:0001977
- 厌食症 HP:0002039
- 动脉血栓形成 HP:0004420
- 骨髓细胞过多 HP:0031020
- 易疲劳性 HP:0003388
- 瘀斑 HP:0031364
- 髓外造血 HP:0001978
- 发热 HP:0001945
- 侧腹疼痛 HP:0030157
- 白细胞增多症 HP:0001974
- 低热 HP:0011134
- 淋巴结肿大 HP:0002716
- 全血细胞减少症 HP:0001876
- 瘀点 HP:0000967
- 异形性红细胞 HP:0004447
- 门脉高压 HP:0001409
- 紫癜 HP:0000979
- 血小板增多症 HP:0001894
- 静脉血栓形成 HP:0004936
罕见 <4–1%4
- 恶病质 HP:0004326
- 血管瘤 HP:0001028
- 血液肿瘤 HP:0004377
- 乳酸脱氢酶活性增高 HP:0025435
排除 0%1
- 自身免疫性抗体阳性 HP:0030057
近两年的全球研究 1,192L2
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开放获取Clinicopathological Features and Exploratory Outcome Associations of Bone Marrow Fibrosis in Newly Diagnosed Acute Lymphoblastic Leukemia: A Single-Center Retrospective Cohort Study
- 2026-09开放获取Extensive Cerebral Venous Sinus Thrombosis With Obstructive Hydrocephalus in a Young Female With Underlying Essential Thrombocythemia: A Case Report
- 2026-09综述开放获取Megakaryocytes in myelofibrosis: mechanisms of fibrotic niche remodeling and therapeutic implications
- 2026-09系统综述开放获取ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review
- 2026-09Integrating Next Generation sequencing into the risk assessment of primary myelofibrosis
- 2026-09开放获取Spleen-derived circulating intercellular adhesion molecule 2 promotes osteosclerosis in chronic myelofibrosis
- 2026-09开放获取Clinicopathologic Characteristics of Somatic <i>TP53</i> Mutations in Philadelphia Chromosome-Negative Myeloproliferative Neoplasms: A Systematic Review
- 2026-09开放获取Ophthalmological and epidemiological profiles of Brazilian patients with philadelphia-negative Myeloproliferative neoplasms
- 2026-09综述开放获取Molecular Response, Event-Free Survival, and Treatment-Free Remission in Myeloproliferative Neoplasms: Update and Review with Insights from MPN Asia 2026
- 2026-09开放获取Activation of Inflammatory and Coagulation Pathways in Patients with Graft-Versus-Host Disease
- 2026-09综述开放获取Microbiota-Inflammation Crosstalk in Myeloproliferative Neoplasms: MPN-Specific Human Data, Mechanistic Plausibility and Translational Priorities
- 2026-09开放获取Limited evidence for causal effects of circulating inflammatory cytokines on the risk of selected hematologic malignancies: a two-sample Mendelian randomization study
- 2026-09开放获取Routine Laboratory-Based Machine Learning for Discriminating Multiple Myeloma from Clinical Mimickers: Development and Internal Validation of a Diagnostic Prediction Model
- 2026-09Interferon-α vs hydroxyurea in patients with myeloproliferative neoplasms (DALIAH): a multicentre, randomised, open-label, phase 3 trial in Denmark
- 2026-09开放获取Interferon-α vs hydroxyurea in patients with myeloproliferative neoplasms (DALIAH): a multicentre, randomised, open-label, phase 3 trial in Denmark
- 2026-09综述开放获取Beyond hypoxia and ccRCC: the expanding universe of VHL novel targets and next-generation therapeutics
- 2026-09综述开放获取Molecular Abnormalities and Associated Clinical Features in Polycythemia Vera
- 2026-09开放获取JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?
- 2026-09随机对照试验Outcomes of patients with myelofibrosis treated with ruxolitinib and anemia-supporting medications
- 2026-09综述From standardization to precision medicine: Evolution of European Leukemianet recommendations in Philadelphia-negative myeloproliferative neoplasms
国家医保药品目录中点名本病的药品 2L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 盐酸吉卡昔替尼片乙类谈判药品限中危或高危原发性骨髓纤维化(PMF)、真性红细胞增多症继发性骨髓纤维化(PPV-MF)和原发性血小板增多症继发性骨髓纤维化(PET-MF)的成人患者。
- 磷酸芦可替尼片乙类西药限：1.中危或高危的原发性骨髓纤维化(PMF)(亦称为慢性特发性骨髓纤维化)、真性红细胞增多症继发的骨髓纤维化(PPV-MF)或原发性血小板增多症继发的骨髓纤维化(PET-MF)的成年患者；2.对糖皮质激素或其他系统治疗应答不充分的12岁及以上急性移植物抗宿主病(急性GVHD)或慢性移植物抗宿主病(慢性GVHD)患者。
境外已获批用于本病的药物 5L2
欧盟 3 项、美国 2 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。
- Inrebic欧盟2021-02-08fedratinib官方记录
- Omjjara欧盟2024-01-25momelotinib官方记录
- Ruxolitinib Viatris欧盟2026-09-18ruxolitinib hemifumarate官方记录
- INREBIC美国2019-08-16Fedratinib官方记录
- Vonjo美国2022-02-28pacritinib官方记录
尚未获批的在研药物（3 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，不代表这个药已被证明有效，也不代表将来一定能上市，绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Enpaxiq; Epjevy欧盟2010-08-2511-(2-pyrrolidin-1-yl-ethoxy)-14,19-dioxa-5,7,26-triaza-tetracyclo[19.3.1.1(2,6).1(8,12)…Treatment of primary myelofibrosis官方记录
- recombinant human pentraxin-2欧盟2014-11-19Treatment of primary myelofibrosis官方记录
- Jaktinib Dihydrochloride Monohydrate美国2020-12-14Treatment of Primary Myelofibrosis (PMF) or Post-polycythemia Vera/Post-essential Thrombocythemia Myelofibrosis (Post-PV/ET MF)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 44L2
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 13
- 招募中NCT04064060A Study to Evaluate Long-term Safety in Participants Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials中国研究中心 6 个：Beijing、Chengdu、Guangzhou、Hangzhou、Shanghai、Tianjin
- 招募中NCT07802405Evaluating Safety ,Tolerability, Pharmacokinetic,Efficacy of WJ01024 or WJ01024 Combined With Ruxolitinib in Patients With Myelofibrosis中国研究中心 1 个：Zhengzhou
- 招募中NCT0616456118F-FAPI PET/MRI Imaging in Myelofibrosis: a Prospective Observational Study.中国研究中心 1 个：Hangzhou
- 招募中NCT0615111968Ga-FAPI PET/CT Imaging for Diagnosis, Grading, and Efficacy Evaluation of Myelofibrosis.中国研究中心 1 个：Xiamen
- 招募中NCT06122831A Clinical Trial of TQ05105 Tablets Combined With TQB3617 Capsules in the Treatment of Myelofibrosis (MF)中国研究中心 22 个：Cangzhou、Changchun、Changzhi、Chengde、Guangzhou、Harbin 等 18 地
- 招募中NCT06674382Haplo-HSCT for Myelofibrosis中国研究中心 1 个：Beijing
- 招募中NCT06378437A Study of GLB-001 in Patients With Myeloid Malignancies中国研究中心 14 个：Beijing、Chongqing、Hangzhou、Hefei、Nanchang、Shanghai 等 13 地
- 招募中NCT07317700A Clinical Trial of Flonoltinib Maleate for Intermediate or High-Risk Myelofibrosis中国研究中心 2 个：Chengdu、Tianjin
- 招募中NCT07443306A Clinical Trial of Flonoltinib Maleate Tablets in the Treatment of JAK Inhibitor Refractory/Relapsed/Intolerant Patients With Intermediate to High Risk Myelofibrosis中国研究中心 2 个：Chengdu、Tianjin
- 招募中NCT07480824To Evaluate the Pharmacokinetics and Safety of TQ05105 Tablet in Hepatic Impairment Subjects中国研究中心 2 个：Jinan、Luoyang
- 尚未开始招募NCT07539779Luspatercept in Preventing Poor Erythroid Engraftment for Hematological Malignancies With Moderate to Severe Myelofibrosis中国研究中心 1 个：Guangzhou
- 招募中NCT07357727A Phase 3 Study of Pelabresib (DAK539) and Ruxolitinib in Myelofibrosis (MF)中国研究中心 17 个：Beijing、Changchun、Chongqing、Fuzhou、Guangzhou、Hangzhou 等 17 地
- 招募中NCT07551427A Clinical Trial to Evaluate the Efficacy, Safety, and Pharmacokinetics of TQ05105 Tablets in Subjects With Intermediate/High-risk Myelofibrosis中国研究中心 24 个：Cangzhou、Changchun、Changzhi、Chengde、Chengdu、Fuzhou 等 22 地
其他状态的试验（31 项）
- 已完成NCT01178281Study of Pomalidomide in Persons With Myeloproliferative-Neoplasm-Associated Myelofibrosis and RBC-Transfusion-Dependence中国研究中心 6 个：Beijing、Jiangsu、Shanghai、Sichuan、Tianjin
- 已完成NCT01392443Asian Phase II Study of INC424 in Patients With Primary Myelofibrosis (MF), Post-PV MF or Post-ET MF中国研究中心 10 个：Beijing、Chengdu、Guangzhou、Hangzhou、Jinan、Nanjing 等 10 地
- 已完成NCT01317875Study of the JAK Inhibitor Ruxolitinib Administered Orally to Patients With Primary Myelofibrosis (PMF), Post-Polycythemia Vera-Myelofibrosis (PPV-MF) or Post-Essential Thrombocythemia-Myelofibrosis (PET-MF)中国研究中心 4 个：Beijing、Chengdu、Hangzhou、Nanjing
- 进行中·不再招募NCT02386800CINC424A2X01B Rollover Protocol中国研究中心 2 个：Beijing、Hangzhou
- 已撤回NCT02663648Cell Cycle Regulatory Gene Study in Patients With Myeloproliferative Disorders中国研究中心 1 个：Jinan
- 已完成NCT03886415Jaktinib Hydrochloride Tablets in Intermediate-risk and High-risk Myelofibrosis.中国研究中心 1 个：Hangzhou
- 已完成NCT03952039An Efficacy and Safety Study of Fedratinib Compared to Best Available Therapy in Subjects With DIPSS-intermediate or High-risk Primary Myelofibrosis, Post-polycythemia Vera Myelofibrosis, or Post-essential Thrombocythemia Myelofibrosis and Previously Treated With Ruxolitinib中国研究中心 4 个：Beijing、Guangzhou, Guangdong、Tianjin、Zhengzhou
- 已完成NCT04217993Jaktinib for the Treatment of Ruxolitinib Intolerance of Myelofibrosis中国研究中心 1 个：Hangzhou
- 已完成NCT04617028Jaktinib Versus Hydroxycarbamide in Subjects With Intermediate-2 or High-risk Myelofibrosis中国研究中心 1 个：Hangzhou
- 进行中·不再招募NCT04279847Safety and Tolerability Study of INCB057643 in Participants With Myelofibrosis and Other Advanced Myeloid Neoplasms中国研究中心 4 个：Beijing、Guangzhou、Hangzhou、Zhengzhou
- 进行中·不再招募NCT04717414An Efficacy and Safety Study of Luspatercept (ACE-536) Versus Placebo in Subjects With Myeloproliferative Neoplasm-Associated Myelofibrosis on Concomitant JAK2 Inhibitor Therapy and Who Require Red Blood Cell Transfusions中国研究中心 20 个：Beijing、Changchun、Changsha、Guangzhou、Harbin、Kunming 等 16 地
- 进行中·不再招募NCT04562870A Study to Evaluate Single Agent Selinexor Versus Physician's Choice in Participants With Previously Treated Myelofibrosis中国研究中心 7 个：Beijing、Changchun、Hangzhou、Nantong、Suzhou、Wuhan
- 已终止NCT04551066To Evaluate the Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis (LIMBER-313)中国研究中心 26 个：Baoding、Beijing、Changchun、Changsha、Fuzhou、Guangzhou 等 22 地
- 已终止NCT04551053To Evaluate Efficacy and Safety of Parsaclisib and Ruxolitinib in Participants With Myelofibrosis Who Have Suboptimal Response to Ruxolitinib (LIMBER-304)中国研究中心 29 个：Beijing、Changchun、Changzhou、Fuzhou、Guangzhou、Hangzhou 等 22 地
- 已完成NCT05982106To Evaluate the Effect of Food on the Pharmacokinetics of TQ05105 Tablets in Healthy Adult Subjects中国研究中心 1 个：Changchun
- 已完成NCT04851535Study of Jaktinib In Patients With Myelofibrosis Who Were Relapsed or Refractory of Ruxolitinib Treatment.中国研究中心 1 个：Hangzhou
- 已终止NCT04866056Jaktinib and Azacitidine In Treating Patients With MDS With MF or MDS/MPN With MF.中国研究中心 1 个：Hangzhou
- 已完成NCT05020652A Clinical Trial of TQ05105 Tablets in the Treatment of Moderate and High Risk Myelofibrosis中国研究中心 4 个：Beijing、Chengdu、Guangzhou、Tianjin
- 已完成NCT05153343Safety of Flonoltinib Maleate Tablets for the Treatment of Patients With Myeloproliferative中国研究中心 1 个：Chengdu
- 状态未知NCT05447260A New Prognostic Stratification-based Safety and Efficacy Study of Ruxolitinib in Myelofibrosis中国研究中心 1 个：Jinan
- 已终止NCT06388759TQ05105 Tablet for Myelofibrosis Treatment in Ruxolitinib-Resistant or Intolerant Patients中国研究中心 6 个：Changchun、Hefei、Shanghai、Wuhan、Wuhu、Xuzhou
- 已完成NCT06024915A Study to Evaluate Drug-Drug Interaction of TQ05105 Tablets中国研究中心 1 个：Jinan
- 已完成NCT06132243Comparative Study on Pharmacokinetics of Two Formulations of Jaktinib in Healthy Adults Under Fasting Conditions中国研究中心 1 个：Changsha
- 进行中·不再招募NCT06457425A Phase II Clinical Trial of Flonoltinib Maleate Tablet in Intermediate-High Risk Myelofibrosis中国研究中心 2 个：Chengdu、Tianjin
- 已终止NCT06245941A Clinical Trial of TQ05105 Tablets Combined With TQB3909 Tablets in the Treatment of Myelofibrosis (MF)中国研究中心 5 个：Hangzhou、Hefei、Tianjin、Xi'an、Zhengzhou
- 已完成NCT06598956To Evaluate the Pharmacokinetics and Safety of TQ05105 Tablet in Renal Impairment Subjects中国研究中心 1 个：Jinan
- 进行中·不再招募NCT06468033P1101 in Treating Patients With Early PMF or Overt PMF at Low or Intermediate-1 Risk中国研究中心 16 个：Beijing、Chengdu、Chongqing、Guangdong、Guangzhou、Hangzhou 等 14 地
- 进行中·不再招募NCT06909136A Study to Evaluate Safety , Efficacy and Pharmacokinetics of WJ01024 Tablets Combined With Ruxolitinib in Patients With Myelofibrosis中国研究中心 1 个：Zhengzhou
- 进行中·不再招募NCT07342712Clinical Trail to Evaluate the Effect of Long-term Treatment With Gecacitinib on Myelofibrosis and Gene Mutation Levels中国研究中心 1 个：Hangzhou
- 进行中·不再招募NCT07608666Study to Evaluate the Effect of Rabeprazole Sodium Enteric-coated Tablets on the Pharmacokinetics of TQ05105 Tablets中国研究中心 1 个：Changsha
- 进行中·不再招募NCT07708272QT Interval/Corrected QT Interval （QT/QTc） Clinical Study to Evaluate the Cardiac Safety of TQ05105 Tablets in Healthy Participants中国研究中心 1 个：Zibo
中国境外的在招试验 115L2
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64法国17意大利17西班牙13德国11英国10澳大利亚9比利时7加拿大7韩国6波兰5罗马尼亚4捷克3希腊3另有 27 个国家/地区
CT.gov 报告命中 115 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07734077Revumenib in Patients With Myelofibrosis美国
- 尚未开始招募NCT07424950Bomedemstat (IMG-7289) in Combination With Momelotinib in Patients With Myelofibrosis
- 尚未开始招募NCT07498205Comparing Momelotinib and Ruxolitinib in People With Untreated Myelofibrosis and Low Blood Cell Counts
- 尚未开始招募NCT07750574Flonoltinib Maleate Oral Regimens in Patients With Myelofibrosis
- 尚未开始招募NCT07805746Peri-graft Cytokine Profile: Influence of Hematologic Disease and Donor Type
- 招募中NCT07623161A Study to Compare Elritercept to Placebo in Adults With Myelofibrosis and Anemia Who Are Taking Ruxolitinib阿根廷、澳大利亚、奥地利、比利时、巴西、保加利亚、加拿大、智利 等 31 国
- 招募中NCT07774455Pacritinib Effectiveness in Real-world Settings美国
- 尚未开始招募NCT07518940ENERGIA: Personalized Exercise Program for Fatigue in Patients With Myeloproliferative Neoplasms and Chronic Myeloid Leukemia意大利
- 尚未开始招募NCT07521046Tolerability of Ropeginterferon Alfa-2b Add-on to Ongoing Ruxolitinib Therapy in Myelofibrosis (RopeRux in Myelofibrosis)美国
- 招募中NCT07302776TACrolimus Targeted Immunosuppression Cessation in ALlogeneic HCT美国
- 尚未开始招募NCT07349134WELL-MPN: A Digital Lifestyle App for Patients With MPNs美国
- 招募中NCT07250646A Study of Rebecsinib for Patients With Relapsed/Refractory Secondary Acute Myeloid Leukemia or High Risk Myelofibrosis美国
- 招募中NCT07379125Therapeutic RSK1 Targeting in Myelofibrosis美国
- 尚未开始招募NCT07529951Study of ZE74-0282 for Patients With JAK2 V617F Positive Blood Cancers
- 招募中NCT07441694Study of INCA036978 in Participants With Myeloproliferative Neoplasms澳大利亚、比利时、加拿大、法国、德国、意大利、日本、韩国 等 11 国
外部标识与链接
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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）