title: Two novel cases of trilateral retinoblastoma: genetics and review of the literature.
abstract: Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described. In our report, we investigated two patients with TRB who showed a germline RB1 point mutation that has never been found to date and a large deletion involving RB1, respectively. Genetic data were compared to our in-house series and to current literature; these data suggested a role for other candidate regions in the pathogenesis of TRB. Moreover, our study highlights the need for new approaches allowing a multigenic analysis to clarify the genotype-phenotype correlation in TRB.
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Gemma
authors.initials: G
authors.lastname: D'Elia
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address: simona.grotta@opbg.net.
authors.forename: Simona
authors.initials: S
authors.lastname: Grotta
authors.affiliation: Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Del Bufalo
authors.affiliation: Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: De Ioris
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Surace
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Sirleto
authors.affiliation: Ophthalmology Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Romanzo
authors.affiliation: Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Cozza
authors.affiliation: Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Adriano
authors.initials: A
authors.lastname: Angioni
mesh_terms: D002648:Child; D002675:Child, Preschool; D003582:Cytogenetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D009693:Nucleic Acid Hybridization; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology
keywords: 13q deletion; RB1 mutation; Trilateral retinoblastoma