Retinoblastoma: Metastatic Disease

Patients with extraocular retinoblastoma have historically had a poor prognosis, but recently, significant improvements in survival have been reported. The presenting signs and symptoms of metastatic retinoblastoma are quite variable and depend on the site or sites of involvement. Common sites of extraocular disease include the orbit, preauricular lymph nodes, bones, bone marrow, liver, and central nervous system. The central nervous system disease can occur as optic nerve disease tracking posteriorly into the brain or as diffuse leptomeningeal involvement. Patients suspected to have extraocular retinoblastoma need to have extensive evaluation in anticipation of aggressive chemotherapy. Recent data suggest that high-dose chemotherapy with autologous stem cell rescue is associated with improved survival for patients with stage 4a metastatic retinoblastoma. The inclusion of thiotepa in the regimen may be associated with a lower risk of CNS recurrence (the most likely site of failure) due to the excellent CNS penetration of that agent.