Possible scenarios:
(1) extraocular tumor as sole manifestation (need a careful ocular exam to exclude spontaneously regressed retinoblastoma)
(2) extraocular tumor in a patient with hereditary retinoblastoma as a manifestation of increased cancer risk
(3) extraocular tumor in a patient with retinoblastoma following radiation and/or chemotherapy
Extra-ocular tumors that may develop associated with an RB1 mutation:
(1) pinealoma (if patient has a retinoblastoma, concurrent pinealoma referred to as a “trilateral” retinoblastoma because of retina-like tissue in the pineal gland)
(2) osteosarcoma
(3) other types of sarcoma
(4) multiple lipomas
(5) malignant melanoma
(6) brain tumors (meningioma, benign gliomas, malignant gliomas)
(7) leukemia
(8) cancers of breast, kidney, esophagus, colon, urinary bladder, thyroid gland, ovary, endometrium, lung, other
Risk factors for an extraocular tumor:
(1) radiation therapy
(2) aggressive chemotherapy
(3) bilateral disease
(4) long-term survival
