Retinoblastoma is a rare form of retinal cancer that occurs in children most commonly between zero and three years of age. The symptoms include pupils that look white instead of red in direct light, crossed eyes, a glazed look, eye pain, and unresponsive pupils . Retinoblastoma has the appreciable characteristics of being both rare and treatable. Chemotherapy is the most widely utilized treatment with favorable outcomes. If the tumor is deemed too large, then enucleation could result in the most favorable outcome .
The incidence of retinoblastoma is 1 in every 15,000-20,000 live births. In most parts of the developed world, more than 95% of cases are successfully treated, whereas less than 50% of cases in underdeveloped countries result in treated cases . This disparity can be attributed to increased difficulty in accessing healthcare and lower economic status. With early detection and treatment, retinoblastoma is a treatable cancer with low prevalence and even lower mortality. Bilateral retinoblastoma, cancer in both eyes, indicates the hereditary component and unilateral indicates somatic mutations [4,5].
Retinoblastoma yields to the two-hit model of cancer initiation. For cancer to be initiated, it is insufficient for only one allele to be inactive or deleted since the second allele is capable of compensating. In hereditary retinoblastoma, the child inherits one copy of chromosome 13 with a missing or defective RB1 allele. This is known as a germinal mutation. With the exception of approximately 15% of cases, all hereditary retinoblastomas are bilateral . In order for retinoblastoma tumorigenesis, a random mutation must occur in the other allele, known as a somatic mu...
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... do not produce tumorigenesis . E2F-DP has been shown to have an indirect role in inducing apoptosis through activating the expression of ARF, and can indirectly induce apoptosis through activating expression of ARF. ARF belongs to the RAS superfamily which binds to and inhibits MDM2 resulting in the activation p53, a major tumor suppressor gene . miR-21, an oncomiR related to tumor growth and metastasis through many cellular pathways, has been shown to be up-regulated in many cancers. Though its involvement in RB specifically is not well understood, a possible strategy for prevention could be the down-regulation of miR-21 . The methylation patterns of some RB tumors have been examined to determine epigenetics’ function in RB . Though the underlying mechanisms are still under investigation, there are many potential molecular mechanisms for preventing RB.
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