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视网膜母细胞瘤

Retinoblastoma

ORPHA:790疾病中国目录 第1批 · 103

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。

基因名称来源条目
RB1RB transcriptional corepressor 1ORPHA:357027

临床表型 27

必现 100%1

  • 视网膜母细胞瘤 HP:0009919

常见 79–30%5

  • 青光眼 HP:0000501
  • 前房积脓 HP:0031615
  • 白瞳症 HP:0000555
  • 眼球突出 HP:0000520
  • 斜视 HP:0000486

偶见 29–5%17

  • 眼部形态异常 HP:0012372
  • 视网膜色素异常 HP:0007703
  • 蜂窝织炎 HP:0100658
  • 虹膜异色 HP:0001100
  • 前房积血 HP:0011886
  • 平滑肌肉瘤 HP:0100243
  • 白血病 HP:0001909
  • 淋巴瘤 HP:0002665
  • 黑色素瘤 HP:0002861
  • 骨肉瘤 HP:0002669
  • 红眼 HP:0025337
  • 视力下降 HP:0007663
  • 视网膜钙化 HP:0007862
  • 横纹肌肉瘤 HP:0002859
  • 视网膜色素上皮下出血 HP:0025244
  • 葡萄膜炎 HP:0000554
  • 玻璃体出血 HP:0007902

罕见 <4–1%4

  • 腭裂 HP:0000175
  • 尤文肉瘤 HP:0012254
  • 神经胶质瘤 HP:0009733
  • 松果体母细胞瘤 HP:0030408

近两年的全球研究 6,653L2

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病例报告
    Concurrent Germline RB1 &amp; Mosaic TP53 in a Child With Multiple Childhood Cancers
    American journal of medical genetics. Part A · DOI · Europe PMC
  • 2026-08
    Quantitative magnetic resonance imaging radiomics predicts photoreceptorness status in retinoblastoma
    Pediatric radiology · DOI · Europe PMC
  • 2026-08
    Super-enhancer landscape regulated by CDK12 drives retinoblastoma progression
    British journal of cancer · DOI · Europe PMC
  • 2026-08
    Retraction notice to "LncRNA Linc-PINT inhibits miR-523-3p to hamper retinoblastoma progression by upregulating Dickkopf-1 (DKK1)" [Biochem. Biophys. Res. Commun. 530 (2020) 47-53]
    Biochemical and biophysical research communications · DOI · Europe PMC
  • 2026-08
    [Atypical spindle cell/pleomorphic lipomatous tumor: a clinicopathological and molecular analysis of nine cases]
    Zhonghua bing li xue za zhi = Chinese journal of pathology · DOI · Europe PMC
  • 2026-08
    Intravesical cretostimogene grenadenorepvec oncolytic immunotherapy in high-risk, BCG-unresponsive, non-muscle-invasive bladder cancer with carcinoma in situ (BOND-003 Cohort C): a single-arm, phase 3 trial
    The Lancet. Oncology · DOI · Europe PMC
  • 2026-08
    Molecular modulators of cyclin-dependent kinase 4/6 inhibitor response in experimental glioma identified through genome-wide CRISPR-Cas9 screening
    Neuro-oncology · DOI · Europe PMC
  • 2026-08
    Shaping CDK4/6 Inhibitor Resistance: BRCA2 Germline Alterations Bias toward RB1 Inactivation
    Cancer research · DOI · Europe PMC
  • 2026-07
    Ligand-based design and synthesis of novel 3-spiro-2-oxindoline derivatives as potent VEGFR-2 inhibitors with antiproliferative activity and cell cycle arrest
    Bioorganic chemistry · DOI · Europe PMC
  • 2026-07
    Eyelid Transplant-Associated Thrombotic Microangiopathy in a Patient With Retinoblastoma
    Journal of pediatric ophthalmology and strabismus · DOI · Europe PMC
  • 2026-07
    pH-responsive ZIF-8-based nitazoxanide nanodelivery system for synergistic inhibition of retinoblastoma growth
    RSC advances · DOI · Europe PMC
  • 2026-07
    Intraocular retinoblastoma features and treatment outcomes according to patient age at initial presentation
    Clinical & experimental optometry · DOI · Europe PMC
  • 2026-07
    Blood-based RBBP7 and RIBC1 methylation as a candidate epigenetic biomarker for ovarian cancer epigenetic markers RBBP7 and RIBC1 in ovarian cancer
    Molecular biology reports · DOI · Europe PMC
  • 2026-07
    Molecular basis of the HPV E7-ZER1 axis reveals a ligandable vulnerability in HPV-positive cancers
    Cell reports · DOI · Europe PMC
  • 2026-07
    Incidence and Severity of Carboplatin-Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria
    Pediatric blood & cancer · DOI · Europe PMC
  • 2026-07
    Eye-Preserving Therapies for Early cT3c Retinoblastoma
    Ophthalmology · DOI · Europe PMC
  • 2026-07
    Retraction notice to "Molecular mechanism of RB progression and Circ_0082415 inhibits MKLN1 translation to suppress retinoblastoma progression: Changes in mRNA and protein levels" [Int. J. Biol. Macromol. 286 (2025) 138524]
    International journal of biological macromolecules · DOI · Europe PMC
  • 2026-07
    망막모세포종에 대한 일차 및 대안 경로를 통한 동맥 내 화학요법의 안구 보존 결과: 인도네시아 단일 기관 경험
    Journal of the Korean Society of Radiology · DOI · Europe PMC
  • 2026-07
    Comment on "Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population-Based Report From CYP-C"
    Pediatric blood & cancer · DOI · Europe PMC
  • 2026-07病例报告
    Retinoblastoma presenting as congenital glaucoma
    BMJ case reports · 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。

已获孤儿药资格、尚未获批的在研药物（8 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。

  • genetically modified human adenovirus encoding human PH20 hyaluronidas欧盟2024-11-10
    Treatment of retinoblastoma
    官方记录
  • melphalan美国2012-11-19
    Treatment of retinoblastoma
    官方记录
  • thioureidobutyronitrile美国2015-11-17
    Treatment of retinoblastoma.
    官方记录
  • Episcleral Topotecan美国2019-07-24
    Treatment of retinoblastoma
    官方记录
  • N-[4-[[2-(1,1-Dimethylethyl)phenyl]sulfonyl]phenyl]-2,3,4-trihydroxy-5美国2020-09-14
    Treatment of retinoblastoma
    官方记录
  • Murine double minute-2 (MDM2) or Human double minute-2 (HDM2)美国2020-11-24
    Treatment of Retinoblastoma
    官方记录
  • Genetically modified human adenovirus encoding human PH20美国2022-02-07
    Treatment of Retinoblastoma
    官方记录
  • topotecan美国2024-07-29
    treatment of retinoblastoma
    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 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
其他状态的试验（8 项）
  • 状态未知NCT02137928
    Carboplatin Periocular Injection for Retinoblastoma
    III 期 · 干预性 · 2006/01Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 已完成NCT04429139
    Photodynamic Therapy With Visudyne for Human Retinoblastoma: A Preliminary Study
    不适用 · 干预性 · 2011/02/01Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 已完成NCT03764930
    Attention to Retinoblastoma Diagnosed in the Trauma Setting
    观察性 · 2013/01/01Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT01899066
    Efficacy Study of Lucentis in the Treatment of Retinoblastoma
    II 期 · 干预性 · 2013/07Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT01906814
    Adjuvant Chemotherapy for High-risk Retinoblastoma After Enucleation
    III 期 · 干预性 · 2013/08Sun Yat-sen University
    中国研究中心 1 个：Guangzhou
  • 状态未知NCT02933333
    G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor
    IV 期 · 干预性 · 2016/09/27Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
    中国研究中心 7 个：Jinan、Qingdao、Shanghai、Suzhou、Xi'an、Xiamen
  • 状态未知NCT05308043
    Deep Learning in Retinoblastoma Detection and Monitoring.
    观察性 · 2020/03/01Beijing Tongren Hospital
    中国研究中心 1 个：Beijing
  • 状态未知NCT04990271
    A Clinical Study on the Efficacy and Safety of VEC Intravenous Chemotherapy Combined With Conbercept Intravitreal Injection in the Treatment of Retinoblastoma
    II 期 · 干预性 · 2021/07/05Chengdu Kanghong Biotech Co., Ltd.
    中国研究中心 5 个：Beijing、Changsha、Shanghai、Wuhan、Zhengzhou

中国境外的在招试验 24L2

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13加拿大3法国2荷兰1澳大利亚1Burkina Faso1Côte d’Ivoire1Democratic Republic of the Congo1Madagascar1Mali1Senegal1

CT.gov 报告命中 24 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NCT06577987
    Safety/Efficacy Study of CID-078 in Patients With Advanced Solid Tumor Malignancies
    I 期 · 干预性 · 2024/08/14Circle Pharma
    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

外部标识与链接

OrphanetOMIM:180200MONDO:0008380GARD:7563ICD-10 C69.2ICD-11 2D02.2ClinicalTrials.gov 检索

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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）