title: Retinoblastoma and deletion of the long arm of chromosome 13: an underestimated diagnosis?
abstract: We report an infant with normal neurological development and phenotype who developed bilateral retinoblastoma (RB). This patient, despite lack of dysmorphic features, demonstrated constitutional abnormality of the long arm of chromosome 13 on standard karyotype. We recommend systematic cytogenetic examinations complemented by fluorescent in situ hybridization as second-line screening in all patients suspected for hereditary RB despite negative RB1 molecular screening and normal phenotype.
authors.affiliation: Department of Pediatric Haematology and Oncology, Saint Luc University Hospital, Catholic University of Louvain, Brussels, Belgium. Brichard@pedi.ucl.ac.be
authors.forename: Bénédicte
authors.initials: B
authors.lastname: Brichard
authors.forename: Christophe
authors.initials: C
authors.lastname: Chantrain
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Gala
authors.forename: Catherine
authors.initials: C
authors.lastname: Sibille
authors.forename: Christiane
authors.initials: C
authors.lastname: Vermylen
authors.forename: Patrick
authors.initials: P
authors.lastname: De Potter
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D016190:Carboplatin / Q000008:administration & dosage; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics / Q000648:ultrastructure*; D003131:Combined Modality Therapy; D005047:Etoposide / Q000008:administration & dosage; D015353:Eye Enucleation; D005188:False Negative Reactions; D005260:Female; D016161:Genes, Retinoblastoma; D006801:Humans; D006979:Hyperthermia, Induced; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012074:Remission Induction; D019572:Retinal Neoplasms / Q000235:genetics* / Q000628:therapy; D012175:Retinoblastoma / Q000235:genetics* / Q000628:therapy; D012886:Skull / Q000002:abnormalities; D014178:Translocation, Genetic / Q000235:genetics*; D014750:Vincristine / Q000008:administration & dosage
chemical_list: D014750:Vincristine; D005047:Etoposide; D016190:Carboplatin