Marcus C de Jong1, Wijnanda A Kors2, Annette C Moll3, Pim de Graaf4, Jonas A Castelijns4, Robin W Jansen4, Brenda Gallie5, Sameh E Soliman6, Furqan Shaikh7, Helen Dimaras8, Tero T Kivelä9. 1. Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands. Electronic address: mc.dejong@vumc.nl. 2. Department of Pediatric Oncology, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands. 3. Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands. 4. Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, The Netherlands. 5. Department of Ophthalmology and Vision Science, The Hospital for Sick Children, Toronto, Canada; Department of Ophthalmology and Vision Science, University of Toronto, Toronto, Canada. 6. Department of Ophthalmology and Vision Science, The Hospital for Sick Children, Toronto, Canada; Faculty of Medicine, Department of Ophthalmology, University of Alexandria, Alexandria, Egypt. 7. Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada. 8. Department of Ophthalmology and Vision Science, The Hospital for Sick Children, Toronto, Canada; Department of Ophthalmology and Vision Science, University of Toronto, Toronto, Canada; Child Health Evaluative Sciences Program, SickKids Research Institute, Toronto, Canada; Division of Clinical Public Health, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada. 9. Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Abstract
TOPIC: To determine the age up to which children are at risk of trilateral retinoblastoma (TRb) developing, whether its onset is linked to the age at which intraocular retinoblastomas develop, and the lead time from a detectable pineal TRb to symptoms. CLINICAL RELEVANCE: Approximately 45% of patients with retinoblastoma-those with a germline RB1 pathogenic variant-are at risk of pineal TRb developing. Early detection and treatment are essential for survival. Current evidence is unclear regarding the usefulness of screening for pineal TRb and, if useful, the age up to which screening should be continued. METHODS: We conducted a study according to the Meta-analysis of Observational Studies in Epidemiology guidelines for reporting meta-analyses of observational studies. We searched PubMed and Embase between January 1, 1966, and February 27, 2019, for published literature. We considered articles reporting patients with TRb with survival and follow-up data. Inclusion of articles was performed separately and independently by 2 authors, and 2 authors also independently extracted the relevant data. They resolved discrepancies by consensus. RESULTS: One hundred thirty-eight patients with pineal TRb were included. Of 22 asymptomatic patients, 21 (95%) were diagnosed before the age of 40 months (median, 16 months; interquartile range, 9-29 months). Age at diagnosis of pineal TRb in patients diagnosed with retinoblastoma at 6 months or younger versus older than 6 months were comparable (P = 0.44), suggesting independence between the ages at diagnosis of intraocular retinoblastoma and pineal TRb. The laterality of intraocular retinoblastoma and its treatment were not associated with the age at which pineal TRb was diagnosed. The lead time from asymptomatic to symptomatic pineal TRb was approximately 1 year. By performing a screening magnetic resonance imaging scan every 6 months after the diagnosis of heritable retinoblastoma (median age, 6 months) until 36 months of age, at least 311 and 776 scans would be required to detect 1 case of asymptomatic pineal TRb and to save a single life, respectively. CONCLUSIONS: Patients with retinoblastoma are at risk of pineal TRb developing for a shorter period than previously assumed, and the age at diagnosis of pineal TRb is independent of the age at diagnosis of retinoblastoma. The GRADE (Grading of Recommendations Assessment, Development and Evaluation) level of evidence for these conclusions remains low.
TOPIC: To determine the age up to which children are at risk of trilateral retinoblastoma (TRb) developing, whether its onset is linked to the age at which intraocular retinoblastomas develop, and the lead time from a detectable pineal TRb to symptoms. CLINICAL RELEVANCE: Approximately 45% of patients with retinoblastoma-those with a germline RB1 pathogenic variant-are at risk of pineal TRb developing. Early detection and treatment are essential for survival. Current evidence is unclear regarding the usefulness of screening for pineal TRb and, if useful, the age up to which screening should be continued. METHODS: We conducted a study according to the Meta-analysis of Observational Studies in Epidemiology guidelines for reporting meta-analyses of observational studies. We searched PubMed and Embase between January 1, 1966, and February 27, 2019, for published literature. We considered articles reporting patients with TRb with survival and follow-up data. Inclusion of articles was performed separately and independently by 2 authors, and 2 authors also independently extracted the relevant data. They resolved discrepancies by consensus. RESULTS: One hundred thirty-eight patients with pineal TRb were included. Of 22 asymptomatic patients, 21 (95%) were diagnosed before the age of 40 months (median, 16 months; interquartile range, 9-29 months). Age at diagnosis of pineal TRb in patients diagnosed with retinoblastoma at 6 months or younger versus older than 6 months were comparable (P = 0.44), suggesting independence between the ages at diagnosis of intraocular retinoblastoma and pineal TRb. The laterality of intraocular retinoblastoma and its treatment were not associated with the age at which pineal TRb was diagnosed. The lead time from asymptomatic to symptomatic pineal TRb was approximately 1 year. By performing a screening magnetic resonance imaging scan every 6 months after the diagnosis of heritable retinoblastoma (median age, 6 months) until 36 months of age, at least 311 and 776 scans would be required to detect 1 case of asymptomatic pineal TRb and to save a single life, respectively. CONCLUSIONS:Patients with retinoblastoma are at risk of pineal TRb developing for a shorter period than previously assumed, and the age at diagnosis of pineal TRb is independent of the age at diagnosis of retinoblastoma. The GRADE (Grading of Recommendations Assessment, Development and Evaluation) level of evidence for these conclusions remains low.
Authors: Felice D'Arco; Livja Mertiri; Pim de Graaf; Bert De Foer; Katarina S Popovič; Maria I Argyropoulou; Kshitij Mankad; Hervé J Brisse; Amy Juliano; Mariasavina Severino; Sofie Van Cauter; Mai-Lan Ho; Caroline D Robson; Ata Siddiqui; Steve Connor; Sotirios Bisdas Journal: Neuroradiology Date: 2022-04-23 Impact factor: 2.804
Authors: Carol L Shields; Zeynep Bas; Andrea Laiton; Ana Maria Velasco Silva; Ahmed Sheikh; Sara E Lally; Jerry A Shields Journal: Eye (Lond) Date: 2022-02-25 Impact factor: 3.775
Authors: Marcus C de Jong; Furqan Shaikh; Brenda Gallie; Wijnanda A Kors; Robin W Jansen; Charlotte Dommering; Pim de Graaf; Annette C Moll; Helen Dimaras; Manohar Shroff; Tero T Kivelä; Sameh E Soliman Journal: Acta Ophthalmol Date: 2021-05-03 Impact factor: 3.988