title: Late-diagnosis retinoblastoma with germline mosaicism in an 8-year-old.
abstract: We describe bilateral retinoblastoma in an 8-year-old girl presenting with macular tumor in one eye and a small peripheral tumor in the other but no detected RB1 gene mutation. Despite chemotherapy, multiple focal laser, cryotherapy, and periocular chemotherapy, tumor activity persisted and enucleation was performed. Two RB1 mutations were found in the tumor; one RB1 mutation was present in 10% of blood cells, identifying mosaicsm.
authors.affiliation: Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Ophthalmology and Visual Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address: tsangpam@yahoo.com.
authors.forename: Paulita Pamela P
authors.initials: PP
authors.lastname: Astudillo
authors.affiliation: Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, Toronto; Department of Pediatrics, University of Toronto.
authors.forename: Helen S L
authors.initials: HS
authors.lastname: Chan
authors.affiliation: Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Ophthalmology and Visual Sciences, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
authors.affiliation: Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada; Departments of Ophthalmology and Visual Sciences, University of Toronto, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto; Department of Molecular Genetics, University of Toronto, Toronto.
authors.forename: Brenda L
authors.initials: BL
authors.lastname: Gallie
mesh_terms: D002648:Child; D015353:Eye Enucleation; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D012175:Retinoblastoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D016160:Retinoblastoma Protein / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: D016160:Retinoblastoma Protein