title: Is screening for primitive neuroectodermal tumors in patients with unilateral retinoblastoma necessary?
abstract: Retinoblastoma is the most common childhood intraocular tumor, occurring in 1 of 18,000 live births. Retinoblastoma may occur as a germinal mutation or a somatic mutation. Forty percent of retinoblastoma cases are caused by a germline mutation and include those patients with a positive family history of the disease. Children with hereditary forms usually have multifocal, bilateral retinoblastoma, whereas children with the somatic form have unilateral, unifocal disease. However, up to 15% of cases of sporadic unilateral retinoblastoma may be hereditary. It is important to recognize that this subgroup of unilateral patients remains at risk for the development of second tumors as well as second primary tumors of the intracranial midline, or "trilateral retinoblastoma." We report a case of a 2-month-old child with unilateral retinoblastoma in whom pinealoblastoma subsequently developed.
authors.affiliation: Division of Ocular Oncology, Department of Ophthalmology, University of California, San Francisco, California 94143-0730, USA.
authors.forename: M S
authors.initials: MS
authors.lastname: Ibarra
authors.forename: J M
authors.initials: JM
authors.lastname: O'Brien
mesh_terms: D001932:Brain Neoplasms / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D015353:Eye Enucleation; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D010870:Pineal Gland / Q000000981:diagnostic imaging*; D010871:Pinealoma / Q000000981:diagnostic imaging*; D019572:Retinal Neoplasms / Q000473:pathology*; D012175:Retinoblastoma / Q000473:pathology*; D014057:Tomography, X-Ray Computed