Cancer Genetics 206 (2013) 398e401
BRIEF COMMUNICATION
Two novel cases of trilateral retinoblastoma: genetics and review of the literature Gemma D’Elia a, Simona Grotta a,*, Francesca Del Bufalo b, Maria Antonietta De Ioris b, Cecilia Surace a, Pietro Sirleto a, Antonino Romanzo c, Raffaele Cozza b, Franco Locatelli b, Adriano Angioni a a b
Children’s Hospital, Rome, Italy; Department of Pediatric Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children’s Hospital, Rome, Italy; c Ophthalmology Unit, Hematology-Oncology and Stem Cell Transplantation, Bambino Gesu Children’s Hospital, Rome, Italy Bambino Gesu 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. Keywords Trilateral retinoblastoma, RB1 mutation, 13q deletion ª 2013 Elsevier Inc. All rights reserved.
Retinoblastoma (RB) is the most common pediatric intraocular malignancy, with an estimated incidence of 1 in 15,000 20,000 live births (1). Trilateral retinoblastoma (TRB) is a rare syndrome characterized by the association of an intracranial neuroblastic tumor, usually in the pineal gland or in the supra/parasellar region, with either unilateral or, more frequently, bilateral RB. It is well recognized that RB is caused by germline and/or somatic mutation inactivating both alleles of RB1 on chromosome 13q14. The risk of developing TRB in RB patients is
BRIEF COMMUNICATION
Two novel cases of trilateral retinoblastoma: genetics and review of the literature Gemma D’Elia a, Simona Grotta a,*, Francesca Del Bufalo b, Maria Antonietta De Ioris b, Cecilia Surace a, Pietro Sirleto a, Antonino Romanzo c, Raffaele Cozza b, Franco Locatelli b, Adriano Angioni a a b
Children’s Hospital, Rome, Italy; Department of Pediatric Cytogenetics and Molecular Genetics Unit, Bambino Gesu Children’s Hospital, Rome, Italy; c Ophthalmology Unit, Hematology-Oncology and Stem Cell Transplantation, Bambino Gesu Children’s Hospital, Rome, Italy Bambino Gesu 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. Keywords Trilateral retinoblastoma, RB1 mutation, 13q deletion ª 2013 Elsevier Inc. All rights reserved.
Retinoblastoma (RB) is the most common pediatric intraocular malignancy, with an estimated incidence of 1 in 15,000 20,000 live births (1). Trilateral retinoblastoma (TRB) is a rare syndrome characterized by the association of an intracranial neuroblastic tumor, usually in the pineal gland or in the supra/parasellar region, with either unilateral or, more frequently, bilateral RB. It is well recognized that RB is caused by germline and/or somatic mutation inactivating both alleles of RB1 on chromosome 13q14. The risk of developing TRB in RB patients is
