Retinoblastoma

Retinoblastoma is the most common form of ocular cancer in children, with an estimated prevalence of one in every 15,000 to 20,000 births. Although it accounts for only 3% of pediatric neoplasms, its impact is significant in children under 5 years of age. It is a malignant neoplasm of the retina, of embryonic origin, with an oncogenic basis in the mutation of the tumor suppressor gene RB1 (somatic or germline). The disease can be broadly classified as intraocular or extraocular. Extraocular disease, especially in stages IVa (metastatic disease with hematogenous spread, single or multiple foci, to bone marrow, bones, liver, lymph nodes) and IVb (extension to the central nervous system, prechiasmatic lesions, or leptomeningeal disease), poses significant challenges to treatment, requiring specialized centers for referral and early diagnosis. This article reviews recent therapeutic approaches, including the use of thiotepa in high-dose chemotherapy with stem cell rescue in a single transplant, or in double schemes for patients with stage IVa and IVb at diagnosis or relapsed.