视网膜母细胞瘤

定义 英文原文（暂无中文）

A rare eye tumor disease representing the most common intraocular malignancy in children. It is a life threatening neoplasia but is potentially curable and it can be hereditary or non hereditary, unilateral or bilateral.

基本事实

遗传方式

常染色体显性、不适用

发病年龄

产前、儿童期、婴儿期

患病率

<1 / 1 000 000（Europe）

相关基因 1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。

临床表型 27

近两年的全球研究 7,056L2

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
  [Magnetic resonance imaging of the orbital cavity: indications and diagnostic possibilities]
  Klinische Monatsblatter fur Augenheilkunde · DOI · Europe PMC
• 2026-10综述开放获取
  Mapping Mutations and Signaling Network Interactions to Guide Precision Therapy in Gallbladder Cancer
  Cancer reports (Hoboken, N.J.) · DOI · Europe PMC
• 2026-10
  Retinoblastoma for the Primary Care Pediatrician
  Pediatrics in review · DOI · Europe PMC
• 2026-10
  SET Interacts With CENP-A and HJURP to Ensure Proper Mitotic Progression in Human Cells
  Cell biology international · DOI · Europe PMC
• 2026-10开放获取
  Inhibition of Calcium-Sensing Receptor Suppresses Malignant Behaviours of Human Hepatocellular Carcinoma
  Journal of cellular and molecular medicine · DOI · Europe PMC
• 2026-10综述开放获取
  CCNE1: A Cell Cycle Regulator That Influences Tumor Progression
  Cancer medicine · DOI · Europe PMC
• 2026-10开放获取
  An Acidic Tubulointerstitial Microenvironment Delays Cell-Cycle Progression in Proximal Tubule Cells and Fibroblasts and Synergizes With Lactate to Drive Phenotypic Alterations
  Acta physiologica (Oxford, England) · DOI · Europe PMC
• 2026-10开放获取
  CDK2 Inhibition Exerts RB-Independent Antitumor Activity in CDK4/6 Inhibitor-Resistant HR+/HER2- Breast Cancer
  Cancer research · DOI · Europe PMC
• 2026-09开放获取
  Identification of benzoxazine scaffold derivatives as novel CDK4 inhibitors for the treatment of cancer
  Journal of enzyme inhibition and medicinal chemistry · DOI · Europe PMC
• 2026-09开放获取
  Sensitizing tumor response to topoisomerase I antibody-drug conjugate by selective CDK7 inhibition
  Science advances · DOI · Europe PMC
• 2026-09综述开放获取
  Cell differentiation-related signaling pathways: biological functions, diseases and therapeutic targets
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-09开放获取
  Protective Effects of Nongxiang-Type &lt;i&gt;Tieguanyin&lt;/i&gt; on the Liver of D-Galactose-Induced Aging C57BL/6 Mice via the NF-κB Signaling Pathway
  Food science & nutrition · DOI · Europe PMC
• 2026-09
  Late Exudative Retinal Detachment in Prior Treated Retinoblastoma
  Ophthalmic surgery, lasers & imaging retina · DOI · Europe PMC
• 2026-09综述
  Oncogenic role of human papillomavirus in oral and oropharyngeal cancers: Molecular insights and clinical implications for dental practice
  Journal of the American Dental Association (1939) · DOI · Europe PMC
• 2026-09开放获取
  Gliomas with pleomorphic and pseudopapillary features (GPAP) are circumscribed tumors with targetable mutations, prolonged survival, and frequent tumor predisposition
  Brain pathology (Zurich, Switzerland) · DOI · Europe PMC
• 2026-09综述开放获取
  PABPC1 in Cancer: From a Translational Housekeeper to a Stress-Responsive Regulatory Hub
  Cancer science · DOI · Europe PMC
• 2026-09开放获取
  USP4-Dependent CHAF1B Stabilization Regulates Distinct SETDB1 Ubiquitin States Linked to AKT T308 Signaling and Lipogenic Remodeling in HCC
  Advanced science (Weinheim, Baden-Wurttemberg, Germany) · DOI · Europe PMC
• 2026-09综述开放获取
  Targeting cancer-associated fibroblasts: therapeutic strategies, translational challenges, and future perspectives
  Journal of hematology & oncology · DOI · Europe PMC
• 2026-09综述开放获取
  Molecular insights into triazole-based compounds for triple-negative breast cancer treatment
  Journal of enzyme inhibition and medicinal chemistry · DOI · Europe PMC
• 2026-09
  Exploring the Role of Immune Checkpoint Inhibitors in Retinoblastoma Prognosis
  Current pharmaceutical design · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

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 14L2

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 6

• 招募中NCT05080010
  Adjuvant Chemotherapy for High-risk Postenucleation Retinoblastoma
  III 期 · 干预性 · 2020/11/01Sun Yat-sen University
  中国研究中心 1 个：Guangzhou
• 招募中NCT06369181
  Neuroendocrine Transformation in RB1/TP53 Inactivated NSCLC
  观察性 · 2021/01/01Fudan University
  中国研究中心 1 个：Shanghai
• 招募中NCT04799002
  Topotecan and Melphalan for Retinoblastoma
  III 期 · 干预性 · 2021/03/11Sun Yat-sen University
  中国研究中心 1 个：Guangzhou
• 招募中NCT04903678
  Intrathecal Chemotherapy for Central Nervous System Metastasis in Retinoblastoma
  不适用 · 干预性 · 2021/05/01Eye & ENT Hospital of Fudan University
  中国研究中心 1 个：Shanghai
• 招募中NCT06424301
  Targeting NUDT21 siRNA Drugs for Patients With Refractory Retinoblastoma
  早期 I 期 · 干预性 · 2024/12/20Eye & ENT Hospital of Fudan University
  中国研究中心 1 个：Shanghai
• 招募中NCT06972602
  High-dose Topotecan for Retinoblastoma With Recurrent or Refractory Vitreous Seed
  早期 I 期 · 干预性 · 2025/04/01Eye & ENT Hospital of Fudan University
  中国研究中心 1 个：Shanghai

中国境外的在招试验 23L2

CT.gov 报告命中 23 项，此处取回并展示最近的 15 项。

• 招募中NCT07633756
  A Phase 1b, Open-Label Study Of REC-617, A Selective CDK7 Inhibitor, In Patients With Metastatic Or Unresectable RB1-Negative Leiomyosarcoma After Prior Systemic Therapy
  I 期 · 干预性 · 2026/10/19M.D. Anderson Cancer Center
  美国
• 尚未开始招募NCT07530458
  Retinoblastoma Consolidation in Egyptians
  观察性 · 2026/05/01Assiut University
• 招募中NCT06498648
  Testing the Addition of an Anti-cancer Drug, Abemaciclib, to the Usual Chemotherapy Treatment (Gemcitabine) for Soft Tissue Sarcoma
  I 期、II 期 · 干预性 · 2026/03/18National Cancer Institute (NCI)
  美国
• 招募中NCT06725173
  Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
  观察性 · 2026/03/16University of Washington
  美国
• 招募中NCT06679634
  Retinoblastoma Phase II Expanded Access Clinical Trial
  II 期 · 干预性 · 2025/02/21Targeted Therapy Technologies, LLC
  美国
• 招募中NCT06367530
  Trilateral Retinoblastoma: Incidence and Outcomes
  观察性 · 2024/01/01Amsterdam UMC, location VUmc
  荷兰
• 招募中NCT05504291
  A Study to Give Treatment Inside the Eye to Treat Retinoblastoma
  II 期 · 干预性 · 2022/11/04Children's Oncology Group
  澳大利亚、加拿大、美国
• 招募中NCT04681417
  Ocular Conservative Treatment for Retinoblastoma : Efficacy of the New Management Strategies and Visual Outcome
  II 期、III 期 · 干预性 · 2021/03/25Institut Curie
  法国
• 招募中NCT04425434
  Therapeutic Recommendations For The Treatment Of Children With A Retinoblastoma
  观察性 · 2020/11/01French Africa Pediatric Oncology Group
  Burkina Faso、Côte d’Ivoire、Democratic Republic of the Congo、Madagascar、Mali、Senegal
• 招募中NCT04040205
  Abemaciclib for Bone and Soft Tissue Sarcoma With Cyclin-Dependent Kinase (CDK) Pathway Alteration
  II 期 · 干预性 · 2019/10/07Medical College of Wisconsin
  美国
• 招募中NCT03932786
  Studying Health Outcomes After Treatment in Patients With Retinoblastoma
  观察性 · 2019/01/24Vanderbilt-Ingram Cancer Center
  加拿大、美国
• 招募中NCT03546387
  Determining Whether Multiple Anesthesia Exposures Affect Cognitive Function for Retinoblastoma Patients
  观察性 · 2018/05/07Memorial Sloan Kettering Cancer Center
  美国
• 招募中NCT03267459
  Can Pretreatment MRI be Used to Predict Intra-arterial Chemotherapy Response in Retinoblastoma?
  观察性 · 2018/01/11Fondation Ophtalmologique Adolphe de Rothschild
  法国
• 招募中NCT03050268
  Familial Investigations of Childhood Cancer Predisposition
  观察性 · 2017/04/06St. Jude Children's Research Hospital
  美国
• 招募中NCT04959097
  Retinoblastoma Patient Clinical Database and Tissue Repository
  观察性 · 2017/01/01Children's Hospital Los Angeles
  加拿大、美国

外部标识与链接