色素绒毛结节性滑膜炎
Tenosynovial giant cell tumor
定义 英文原文（暂无中文）
A rare soft tissue tumor characterized by lesions predominantly originating from the synovial tissue of joints, tendon sheaths, or bursa. They are typically benign tumors that can either be localized or diffused. Localized tumors are usually painless, firm and slow growing, detected mostly in the fingers and hand (can also be present in wrist, foot or ankle), and patients are asymptomatic. Diffuse-type tumors are more aggressive and often involve large joints (knee, hip, ankle and shoulder). Symptoms may include joint pain, tenderness, swelling, limitation of motion and hemorrhagic joint effusions. Some localized tumors may recur, however they are usually non-destructive. Recurrences are more common in diffused tumors and can lead to joint instability, degenerative joint disease and significant functional impairment. Rare cases with malignant transformation, presenting as aggressive sarcomas leading to local destruction and metastasis to lymph nodes (particularly inguinal and pelvic) and lungs are also reported.
别名
腱鞘巨细胞瘤
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-5 / 10 000（Europe）
临床表型 24
极常见 99–80%1
- 关节疼痛 HP:0002829
常见 79–30%7
- 膝关节异常 HP:0002815
- 关节炎 HP:0001369
- 关节出血 HP:0005261
- 关节僵硬 HP:0001387
- 关节肿胀 HP:0001386
- 关节活动受限 HP:0001376
- 骨质溶解 HP:0002797
偶见 29–5%12
- 颞骨形态异常 HP:0009911
- 脚踝异常 HP:0003028
- 耳道形态异常 HP:0000372
- 肘部异常 HP:0009811
- 髋关节形态异常 HP:0001384
- 肩部形态异常 HP:0003043
- 鼓膜形态异常 HP:0040090
- 手腕异常 HP:0003019
- 传导性听力受损 HP:0000405
- 腹股沟痛 HP:0031520
- 淋巴水肿 HP:0001004
- 多发性雀斑样痣 HP:0001003
罕见 <4–1%4
- 软骨钙质沉着症 HP:0000934
- 局部骨质疏松 HP:0040161
- 多关节病 HP:0005195
- 滑膜内层增生 HP:0005186
近两年的全球研究 327L2
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。
- 2026-08Racial Distribution of Tenosynovial Giant Cell Tumor: Analysis of Surveillance, Epidemiology, and End Results Database
- 2026-07Lessons in balancing function with oncological control in a destructive lumbosacral tumor of uncertain pathology: illustrative case
- 2026-07TANGENT study design: a phase III, randomized study of emactuzumab for the treatment of tenosynovial giant cell tumors
- 2026-07病例报告Endobronchial pulmonary metastasis in malignant tenosynovial giant cell tumor: A rare cause of central airway obstruction
- 2026-07病例报告Hypophosphatemic osteomalacia caused by diffuse tenosynovial giant cell tumor misdiagnosed as spondyloarthritis: a case report
- 2026-07病例报告Intra-articular synovial arteriovenous malformation: A case report study
- 2026-07病例报告Beyond the Usual Suspects: Recognizing Calcified Chondroid Mesenchymal Neoplasm in Hand Soft Tissue Tumors
- 2026-07Bilateral Giant Cell Tumour of the Achilles Tendon Sheath: A Rare Case Managed with Peroneus Brevis Tendon Transfer
- 2026-06综述开放获取TAM-targeted nanomedicine in cancer: biological basis, therapeutic strategies, and translational perspectives
- 2026-06综述开放获取Nano-Immunotherapy Targeting TAMs: Precisely Regulating TAMs to Reverse Immunosuppressive TME
- 2026-06Diagnostic Assessment and Surgical Management of Synovial Chondromatosis of the Midfoot in a 13-Year-Old Child
- 2026-06病例报告开放获取A Case of Tumor-Induced Osteomalacia Masked by Parathyroid Carcinoma
- 2026-06Benign intra-articular soft tissue tumors mimicking hip septic arthritis: an arthroscopic case series with tenosynovial giant cell tumor predominance
- 2026-06综述开放获取Malignant Transformation and Progression of Musculoskeletal Lesions with Imaging–Pathology Correlation—Part 2: Soft Tissue Lesions
- 2026-05病例报告Chondroid Tenosynovial Giant Cell Tumor of the Temporomandibular Joint: A Case Report
- 2026-05Clinical significance of immunocyte- and ferroptosis-related markers for the prognosis of patients with tenosynovial giant cell tumor: A cross-sectional study
- 2026-05综述开放获取Tenosynovial giant cell tumor of the hip: a systematic review and institutional case series with Meta-analysis of recurrence and patient-reported outcomes
- 2026-05开放获取Correction: Mixed-Methods to Define Meaningful Change using Exit Interview and Clinical Trial Data in Patients with Tenosynovial Giant Cell Tumor (TGCT)
- 2026-05开放获取Fungal metabolite-based immunotherapy overcomes tumor-associated macrophage immunosuppression
- 2026-05开放获取Beyond Surgical Margins: Fully Mature Tertiary Lymphoid Structures (fmTLSs) Are Predictive Biomarkers for Local Recurrence in Primary Soft-Tissue Sarcomas
境外已获批用于本病的药物 1L2
欧盟 1 项、美国 0 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。
- Romvimza欧盟2025-09-17vimseltinib官方记录
已获孤儿药资格、尚未获批的在研药物（2 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，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。
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 9L2
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 3
- 招募中NCT04192344A Study to Assess the Safety, Tolerability, and Pharmacokinetics of ABSK-021 in Patients With Advanced Solid Tumor中国研究中心 13 个：Beijing、Chengdu、Guangdong、Hangzhou、Nanjing、Shanghai 等 10 地
- 招募中NCT07315841Accuracy of Indocyanine Green (ICG) Fluorescence Imaging in Tenosynovial Giant Cell Tumor Surgery中国研究中心 1 个：Shanghai
- 尚未开始招募NCT07707882Neoadjuvant Pimicotinib Combined With Surgery Versus Upfront Surgery for Diffuse Tenosynovial Giant Cell Tumor中国研究中心 1 个：Hangzhou
其他状态的试验（6 项）
- 已完成NCT04952896Clinical Study of Magnetic Resonance Imaging and Deep Learning of Joint Synovial Disease中国研究中心 1 个：Beijing
- 已完成NCT04955535Screening of Specific Genes for Pigmented Villous Nodular Synovitis中国研究中心 1 个：Beijing
- 进行中·不再招募NCT04488822A Study of the Efficacy and Safety of Pexidartinib in Adult Subjects With TGCT中国研究中心 7 个：Beijing、Guangzhou、Hangzhou、Shanghai
- 状态未知NCT05212896An Exploratory Clinical Study of BC006 in Patients With Advanced Solid Tumors中国研究中心 1 个：Shanghai
- 状态未知NCT05277454Clinical Study of HMPL-653 in Treatment of Advanced Malignant Solid Tumors and TGCT中国研究中心 5 个：Changchun、Harbin、Linyi、Zhengzhou
- 进行中·不再招募NCT05804045Study of Pimicotinib (ABSK021) for Tenosynovial Giant Cell Tumor (MANEUVER)中国研究中心 23 个：Beijing、Bengbu、Changsha、Chengdu、Enshi、Fuzhou 等 18 地
中国境外的在招试验 9L2
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。
CT.gov 报告命中 9 项，此处取回并展示最近的 6 项。
- 尚未开始招募NCT07503821Synovial Tissue as a Biomarker in the Management of Pigmented Villonodular Synovitis法国
- 招募中NCT07499362Study of Pimicotinib in Japanese Participants With Tenosynovial Giant Cell Tumor (TGCT) (J-MANEUVER)日本
- 招募中NCT07075471MOVE: Tenosynovial Giant Cell Tumor (TGCT) Real-World Participant Experience With Vimseltinib美国
- 招募中NCT06239272NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)美国
- 招募中NCT04635111A Long-term Study Evaluating Hepatotoxicity Associated With TURALIO™ (Pexidartinib) Treatment美国
- 招募中NCT02390752Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) and Tenosynovial Giant Cell Tumor ...美国
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）