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Extraocular retinoblastoma is a form of cancer that expands beyond the globe of the eye, presenting considerable difficulty in managing pediatric cancer. Protheragen possesses state-of-the-art technologies and expert knowledge in ocular neoplastic disease research and, therefore, offers diagnostics and therapeutics development services for extraocular retinoblastoma.
This form of retinoblastoma, or retinoblastoma of the eye, is exceptionally uncommon and aggressive. As seen with other forms of retinoblastoma, the condition primarily occurs in children, but extraocular retinoblastoma occurs when retinoblastoma tumorous cells develop outside of the eye globe, whether in the orbit, bone, or bone marrow. The tumorous cells can also extend into the CNS through the optic nerve or subarachnoid space. Such an advancement of the tumor makes the form of extraocular retinoblastoma much more difficult to treat and significantly worsens the prognosis.
Fig.1 Significantly altered copy number regions identified by GISTIC. (Aschero R., et al., 2021)The development of extraocular retinoblastoma can be traced to genetic and cellular changes that guide the evolution of retinal cells into cancerous cells. The most important genetic event centers around changes in the tumor suppressor gene, RB1, which has mutations or deletions within it. The absence of functional pRb retinoblastoma protein owing to mutation(s) within the RB1 leads to unchecked cell division and the development of retinoblastoma tumors.
Cerebrospinal Fluid (CSF) Analysis: The crucial diagnosis of leptomeningeal spread with its poor associated prognosis also hinges on CSF cytology.
RB1 Gene Mutation Analysis: Identification of hereditary retinoblastoma is strictly dependent on the testing of mutations of the gene RB1 and hence this genetic analysis is very important.
Liquid Biopsy: The analysis of circulating tumor DNA (ctDNA) is replacing traditional methods in more advanced areas of medicine. In oncology, it is useful for both the detection of minimal residual disease and the assessment of therapeutic efficacy.
Protheragen offers comprehensive services for the development of diagnostics and therapeutics for extraocular retinoblastoma. Our expertise spans the entire spectrum of research and development, from early-stage discovery to preclinical evaluation.
Protheragen's commitment to innovation and excellence drives us to deliver the highest quality services, advancing the fight against extraocular retinoblastoma. If you are interested in our services, please feel free to contact us.
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