致癌性骨软化症

定义

一种罕见的副肿瘤综合征，其特征是混合结缔组织变体的磷尿间充质瘤导致肾磷消耗和骨脱矿。它会导致成人骨软化症，伴有骨痛和病理性骨折，儿童则会出现佝偻病。

别名

瘤源性低磷性骨软化症

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（Europe）

临床表型 35

近两年的全球研究 50L2

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。

• 2026-07系统综述
  Clinical characteristics of pediatric tumor-induced osteomalacia: a systematic review and individual patient data analysis
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-05
  Diagnostic Performance of Somatostatin Receptor-directed PET/CT for Tumor-induced Osteomalacia
  Molecular imaging and biology · DOI · Europe PMC
• 2026-04病例报告开放获取
  Case report: life-threatening endocarditis in an adult with repaired congenital heart disease lost to follow-up
  European heart journal. Case reports · DOI · Europe PMC
• 2026-04病例报告
  Oncogenic Osteomalacia Due to Tumor in the Femoral Head Managed by Excision and Femoral Head Preservation: A Case Report
  JBJS case connector · DOI · Europe PMC
• 2026-04系统综述开放获取
  Burosumab an emerging therapy in TIO: a local clinical survey and a systematic review with individual patient data analysis
  Frontiers in endocrinology · 被引 1 · DOI · Europe PMC
• 2026-04病例报告
  Diagnostic Challenges in Oncogenic Osteomalacia due to Intracranial Phosphaturic Mesenchymal Tumor: A Case Report
  JBJS case connector · DOI · Europe PMC
• 2026-04开放获取
  Diffuse and Prolonged Bone Pain Revealing Tumor-Induced Osteomalacia: A Case Report
  Clinical case reports · DOI · Europe PMC
• 2026-02病例报告开放获取
  Gluteal hemangioma mimicking a neuroendocrine tumor: pitfalls in neuroendocrine tumor diagnostic testing
  JCEM case reports · DOI · Europe PMC
• 2026-01病例报告开放获取
  A 65-year-old male with phosphaturic mesenchymal tumor presenting as tumor-induced osteomalacia: a case report
  Annals of medicine and surgery (2012) · DOI · Europe PMC
• 2026-01综述病例报告开放获取
  β-Human Chorionic Gonadotropin-Secreting Giant Cell Tumor of Bone in the Mandible: Case Report and Comprehensive Literature Review
  Head and neck pathology · DOI · Europe PMC
• 2026-01开放获取
  DOTATATE Scan in Meningiomatosis in a Patient With Ophthalmoplegia
  Case reports in ophthalmological medicine · DOI · Europe PMC
• 2026-01病例报告开放获取
  Educational Case: Atypical presentation of primary hyperparathyroidism with brown tumor
  Academic pathology · DOI · Europe PMC
• 2026-01开放获取
  O-28 HYPOPHOSPHATEMIC ONCOGENIC OSTEOMALACIA: A CASE REPORT
  JCEM case reports
• 2025-12病例报告开放获取
  Tumor-Induced Osteomalacia Mimicking Metastases on Ga-68 DOTATATE Scan: A Rare Pericytic Variant of Phosphaturic Mesenchymal Tumor
  Radiology case reports · DOI · Europe PMC
• 2025-11开放获取
  Surgical Treatment for Osteomalacia Induced by Causative Tumor in the Knee Joint Region: A Single-Center Retrospective Clinical Study Over 10 Years
  Orthopaedic surgery · 被引 1 · DOI · Europe PMC
• 2025-10
  Association between Serum Glycerol-3-Phosphate and Fibroblast Growth Factor-23 in Nondiabetic Patients on Hemodialysis
  Clinical journal of the American Society of Nephrology : CJASN · 被引 1 · DOI · Europe PMC
• 2025-10综述开放获取
  X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab
  Orphanet journal of rare diseases · 被引 1 · DOI · Europe PMC
• 2025-10病例报告开放获取
  Hypophosphatemia in the Diagnosis and Management of Primary Hyperparathyroidism
  Journal of clinical medicine · DOI · Europe PMC
• 2025-09综述病例报告开放获取
  Bone disease in kidney transplant: don't forget about osteomalacia: a case report and literature review
  International urology and nephrology · 被引 2 · DOI · Europe PMC
• 2025-09综述病例报告开放获取
  Case Report with Literature Review: Tumor-induced osteomalacia from a soft-tissue phosphaturic mesenchymal tumor of the trunk
  Frontiers in endocrinology · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 0 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Crysvita美国2020-06-18
  burosumab-twza
  官方记录

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 5L2

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NCT07366099
  Al18F-NOTA-LM3 PET/CT in Patients With TIO
  不适用 · 干预性 · 2023/03/30Peking Union Medical College Hospital
  中国研究中心 1 个：Beijing

中国境外的在招试验 3L2

CT.gov 报告命中 3 项，此处取回并展示最近的 2 项。

• 招募中NCT00024804
  A Natural History Study of Bone and Mineral Disorders
  观察性 · 2001/11/19National Institute of Dental and Craniofacial Research (NIDCR)
  美国
• 可获取（拓展性用药）NCT03775187
  Expanded Access to Burosumab
  拓展性用药Kyowa Kirin Co., Ltd.

外部标识与链接