Bilateral retinoblastoma is a rare form of childhood eye cancer that is both aggressive and bilateral. Protheragen stands at the forefront of developing advanced Bilateral Retinoblastoma diagnostic and therapeutic solutions.
Introduction to Bilateral Retinoblastoma
Bilateral retinoblastoma accounts for a type of retinogenic cancer common in children. It usually leads to a germline mutation in the RB1 gene, causing the loss of function of the encoded protein. This protein is vital for cell cycle phase transitions, so it's obvious why the formation of a retinal tumor would result from the uncontrollable proliferation of retinal cells. Bilateral expression of the disease denotes conjectural multicentric manifestation of RB1 mutation. In addition to the cancer being life threatening, it greatly impacts a child's vision and quality of life.
Fig.1 Diagnosis and genomic profiles of bilateral retinoblastoma. (Wong E. Y.,
et al., 2021)
Genetic Diagnostics for Bilateral Retinoblastoma
- RB1 Gene Mutation Analysis: Molecular diagnosis of bilateral RB relies on genetic testing for germline mutations in the RB1 gene. Carrier identification can be performed through blood and saliva samples.
- Preimplantation Genetic Diagnosis (PGD): In families with a history of retinoblastoma, preimplantation genetic diagnosis PGD may be used during in vitro fertilization to select embryos free of the RB1 mutation, thereby decreasing the likelihood of transmitting the disease to children.
Therapeutics Development for Bilateral Retinoblastoma
- Ophthalmic Artery Chemotherapy (OAC)
Ocular (or ophthalmic) artery chemotherapy (OAC) has become a revolutionary therapeutic option for bilateral retinoblastoma. This technique consists of selective catheterization of the ophthalmic artery for the direct delivery of chemotherapy to the affected eye. With OAC, drug delivery is localized, which helps to achieve maximal control of the tumor and minimal systemic side effects.
- Intravitreous Chemotherapy
The process of intravitreous chemotherapy consists of injecting chemotherapy medications directly into the eye's vitreous body. This method is notably useful for vitreous seeds and has been effective in preventing recurrence. Reported response rates to melphalan and topotecan are high with minimal systemic side effects. Intravitreal chemotherapy is usually combined with OAC for better results.
- Targeted Therapies
New studies are looking into biologically targeted therapies and immunotherapies directed at retinoblastoma cells. These new approaches look to take advantage of molecular weaknesses in the cancer cells while protecting the surrounding tissues. One example is the ongoing research into mTOR inhibitors as targeted therapies and the use of immune checkpoint inhibitors as immunotherapies to improve outcomes with fewer detrimental effects.
Our Services
Recognizing the distinctive implications of Bilateral Retinoblastoma, Protheragen has a customized service approach for every client. Our specialist teams offer fully integrated research assistance alongside tailored therapeutic and diagnostic services to guarantee that all elements of Retinoblastoma therapeutics development are skillfully managed.
- Karyotype Analysis Service
- Omics Analysis Service
- Biomarker Development Service
- Artificial Intelligence Service
- Customized Diagnostics Development
- Small Molecule Drug
- Cell Therapy
- Gene Therapy
- Therapeutic Antibody
- Therapeutic Peptide
- Therapeutic Protein
- Customized Therapy Development
- RB1 Mutation Mouse Models
- Human Y79 Cell Xenograft Mouse Models
- Intraocular Injection Rabbit Models
- Non-Human Primate Models
Protheragen's state-of-the-art facilities and expert team provide comprehensive preclinical testing, including in vitro and in vivo studies. We utilize advanced cell culture models and animal models to evaluate the efficacy and safety of new therapeutics. If you are interested in our services, please feel free to contact us.
References
- Wong, Elyssa Y., et al. "Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy." NPJ Precision Oncology 5.1 (2021): 73.
- 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.
