Online Inquiry

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.


Retinoblastoma (RB)

Retinoblastoma (RB) is a rare pediatric cancer that predominantly affects the eyes, specifically the retina. Our company is a leading provider of rare disease research and drug development services and is dedicated to advancing therapy development for retinoblastoma.

Introduction to Retinoblastoma (RB)

Retinoblastoma is a rare malignant intraocular tumor in childhood. Retinoblastoma accounts for 2% of all children's cancer. It arises from mutations in the retinoblastoma gene (RB1) located on chromosome 13q14.2. RB1 mutations lead to the inactivation of both alleles of the RB1 tumor suppressor gene, resulting in a defective retinoblastoma protein (pRb). This leads to impaired cell cycle regulation and uncontrolled cell proliferation, characteristic of cancer.

Pathogenesis of Retinoblastoma (RB)

Retinoblastoma is primarily caused by genetic alterations in the RB1 gene, which plays a crucial role in regulating cell division and preventing the formation of tumors. In hereditary cases, a child inherits one mutated copy of the RB1 gene from a parent who carries the mutation. In sporadic cases, the mutation occurs spontaneously during embryonic development. The RB1 gene mutation leads to a loss of function in the retinoblasts, enabling uncontrolled cell growth and the formation of tumors in the retina.

Retinoblastoma research and development.Fig. 1 Development of retinoblastoma. (Kaewkhaw R., et al., 2020)

Molecular and Cellular Basis of Retinoblastoma (RB)

The RB1 gene consists of 27 exons spanning 183 kilobases of genomic DNA and encodes the pRb protein. pRb is a nuclear phosphoprotein that acts as a cell cycle regulator. In its hypophosphorylated form, pRb arrests the cell cycle at the G1 restriction point by binding E2F transcription factors. However, in retinoblastoma, pRb is functionally inactive due to mutations or deletions, leading to uncontrolled cell division.

Genomic changes, such as amplification of the MYCN oncogene, can initiate RB even in the absence of RB1 mutations. Other recurring genomic changes in a small minority of tumors include BCOR mutation/deletion and OTX2 amplification. Understanding these molecular alterations is crucial for developing targeted therapies.

Therapies of Retinoblastoma (RB)

Systemic Chemotherapy

Systemic chemotherapy involves the use of drugs that can be administered orally or intravenously to target cancer cells throughout the body. In the therapeutics of retinoblastoma, the most commonly used regimen is vincristine, carboplatin, and etoposide (VEC). This combination has demonstrated high success rates in preserving affected eyes while effectively controlling tumor growth.

Targeted Therapies

Some potential targets include SKP2 inhibitors, which have shown promise in suppressing the growth of retinoblastoma cells, and small molecule inhibitors of MDM2-p53 interaction, which induce p53-mediated death of retinoblastoma cells. Furthermore, histone deacetylase (HDAC) inhibitors and SYK inhibitors have shown potential in selectively killing tumor cells while sparing normal retinal tissue.

Our Services

Our company provides molecular diagnostic testing to identify RB1 mutations and other genomic alterations associated with RB. This enables precise characterization of each tumor profile, allowing for personalized therapy strategies.

Therapy Development Platforms

Animal Models of Retinoblastoma (RB)

Genetic Engineering Model Development
In retinoblastoma, the inactivation of the Rb1 gene is a hallmark event. However, studies have shown that mice lacking only the Rb1 gene do not develop retinoblastoma. To address this discrepancy, Our company's GEMMs incorporate additional inactivation of the p107 or p130 genes, which are crucial for tumorigenesis. By mimicking these genetic alterations, our models better reflect the pathogenesis of retinoblastoma.
Optional Models
  • Rb1/p107 DKO
  • Rb1/p130 DKO
  • Rb1/p107/p130 TKO
  • Rb1/p107/p53 TKO
  • Rb1/p107 DKO/MDMX Tg
  • Rb1/p107/Pten TKO
  • Rb1 KO/MYCN
  • Others
Xenograft Model Development
Xenograft models have emerged as valuable tools for studying retinoblastoma due to their ability to replicate human tumor characteristics. Our company's xenograft model development service offers researchers the opportunity to implant patient-derived retinoblastoma cells into immunodeficient animals, enabling the study of tumor growth, invasion, and therapeutic responses.
Optional Models
  • Orthotopic Implantation
  • Subcutaneous Xenografts
Optional Cell Lines RB109-LAK, RB102-FER, RB111-MIL, Others
Optional Species Mouse, Rat, Non-human primates, Others

Furthermore, we offer a wide range of personalized animal models tailored to meet various requirements. If you are interested in our services, please do not hesitate to contact us for further information and details regarding pricing and related services.


  • Kaewkhaw, Rossukon, and Duangnate Rojanaporn. "Retinoblastoma: etiology, modeling, and treatment." Cancers 12.8 (2020): 2304.
  • Ancona-Lezama, David, Lauren A. Dalvin, and Carol L. Shields. "Modern treatment of retinoblastoma: A 2020 review." Indian journal of ophthalmology 68.11 (2020): 2356-2365.
  • Cruz-Gálvez, Claudia Carolina, et al. "Retinoblastoma: Review and new insights." Frontiers in oncology 12 (2022): 963780.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

Related Services

Copyright © Protheragen. All rights reserves.