Distant metastatic retinoblastoma without central nervous system involvement

Abstract

Retinoblastoma is the most common intraocular malignancy in children, with a reported incidence ranging from 1 in 15,000 to 1 in 18,000 live births. Metastatic retinoblastoma is rare in developed countries, with a reported range from 4.8% in the United States to 5.8% in the United Kingdom. However, the frequency reported from developing countries varies from 9 to 11% at presentation. The mortality is very high owing to late presentations, delayed diagnosis compounded by socio-economic factors. The management of metastatic retinoblastoma is evolving, but it is still a challenge in pediatric oncology. We present a case of an extensive skeletal metastasis that initially presented as a massive orbital retinoblastoma.

Metastatic retinoblastoma of the parotid and submandibular glands: a rare case report

“…It accounts for 3% of all childhood malignant tumours in developed countries. Metastasis of retinoblastoma is also rare in the developed world, with a reported incidence ranging from 4.8% in the United States to 5.8% in the United Kingdom, where early diagnosis achieves a cure for most children [ 6 ]. However, advanced and metastatic tumours occur frequently in developing countries, which have incidence rates of about 9 to 11%, and referral may account for delayed diagnosis [ 7 – 9 ].…”

Risk definition and management strategies in retinoblastoma: current perspectives

“…High-risk retinoblastoma leads to metastasis in 24% of patients if not treated with systemic chemotherapy, compared with 4% of those who receive it 17. However, it is a significant contributor to retinoblastoma-related mortality in developing nations 22,23. Clinical, genetic, and histopathologic features have been already identified and appreciated as risk factors for metastatic disease 24.…”

“…17 However, it is a significant contributor to retinoblastoma-related mortality in developing nations. 22 , 23 Clinical, genetic, and histopathologic features have been already identified and appreciated as risk factors for metastatic disease. 24 The main histopathologic high-risk factors have been already defined, including anterior chamber seeding, iris and ciliary body infiltration, tumor invasion beyond the lamina cribrosa (in the neural parenchyma, cerebrospinal fluid, and neural blood vessels), involved optic nerve transection site, massive choroidal infiltration (>3 mm), scleral infiltration, and extrascleral extension.…”

Carboplatin- and Etoposide-Loaded Lactoferrin Protein Nanoparticles for Targeting Cancer Stem Cells in Retinoblastoma In Vitro

“… 1 Due to advanced diseases at presentation in some low- and middle-income countries, Rb cases can show high clinical and histologic risk factors (e.g., invasion into the optic nerve, choroid, sclera, and the anterior chamber of the eye) and may also metastasize to the central nervous system (CNS) and bone marrow, as confirmed by evaluation of cerebrospinal fluid and bone marrow cytologic examination. 2 , 3 Multimodal treatment options are required because of the low survival rate associated with metastatic Rb. The current treatment options include enucleation, radiotherapy, cryotherapy, thermotherapy, and chemotherapy, depending on tumor size, location, and stage.…”