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Retinoblastoma: A molecular, clinical and therapeutic approach

Abstract:

Retinoblastoma is the most common malignant ocular tumor in children, produced by a mutation in the Retinoblastoma 1 (RB1) tumor suppressor gene in the retinal cell genome. It has been pointed out that retinoblastoma originates in the retina´s inner nuclear layer, however, in some individuals, photoreceptor-like cells have been found in retinoblastoma, so there is still controversy about the type of cell that causes the tumor. Retinoblastoma is an autosomal dominant disease, where both RB1 gene alleles are usually mutated, causing pRb to inactivate and generate cell cycle alterations. It can affect one or both eyes, and the most common clinical sign is the leukocoria. Following clinical suspicion, an experienced ophthalmologist should perform an indirect ophthalmoscopy with complete mydriasis in order to locate the tumor. In addition, imaging techniques such as b-scan ultrasound, computed tomography, or magnetic resonance imaging may be used to confirm the diagnosis and explore the tumor´s nature. Recently, is well-established that chemo-reduction followed by adjuvant focal consolidation, combined with early detection have contributed to increased overall survival and decreased morbidity. Guidelines evolution to encompass retinoblastoma in both, molecular and clinical aspects, have been aimed to provide a better management of affected patient with this condition.