Retinoblastoma with acute lymphoblastic leukemia, polyposis coli, and multiple hamartomas

It has long been recognized that compared with their age- and sex-matched controls, survivors of hereditary retinoblastoma have a considerably higher risk of the development of second malignancies (10% at 20 years and 15% at 30 years of follow-up), including osteosarcoma, leiomyosarcoma, melanoma, fibrosarcoma, and other rare spindle cell sarcomas.^1,2 Patients with the nongenetic variety of retinoblastoma do not particularly seem to have an increased incidence of other malignancies than the general population.¹ However, it should be noted that a child with unilateral disease carries a 15% chance of having germline mutation.³ The cumulative mortality rate from second malignancies was 1.5% at 40 years after unilateral retinoblastoma diagnosis and 26% for bilateral cases in a large survey of 1458 patients.² A child with unilateral retinoblastoma, café au lait spots, hairy nevus, and grouped pigmentation of retina in the fellow eye is described who furthermore developed acute leukemia and polyposis coli.