Magnetic resonance imaging screening for trilateral retinoblastoma: The Memorial Sloan Kettering Cancer Center experience 2006–2016 Journal Article


Authors: Qureshi, S.; Francis, J. H.; Haque, S. S.; Dunkel, I. J.; Souweidane, M. M.; Friedman, D. N.; Abramson, D. H.
Article Title: Magnetic resonance imaging screening for trilateral retinoblastoma: The Memorial Sloan Kettering Cancer Center experience 2006–2016
Abstract: Purpose: Magnetic resonance imaging (MRI) has been used for baseline brain imaging and afterward as a screening tool for trilateral retinoblastoma (TRB), but there is no consensus on timing or frequency of screening worldwide. In this study, a cohort of hereditary retinoblastoma patients at increased risk for TRB was identified and the usefulness of aggressive neuroimaging was examined. Design: Retrospective review of the medical records and MRI reports of patients with retinoblastoma treated at Memorial Sloan Kettering Cancer Center between January 1, 2006, and December 31, 2016. Participants: Three hundred forty-nine total patients with retinoblastoma, including 215 hereditary retinoblastoma patients in the screening group. Methods: We reviewed 804 MRI studies of the orbit or brain. Patient and disease characteristics, including laterality, family history, and gene mutation status were analyzed. The impression of every MRI was coded 1 to 5, each value representing a different abnormality. Main Outcome Measures: We calculated the incidence of TRB in patients with germline disease as well as the incidence of screening MRI scans showing TRB. Results: Among our hereditary retinoblastoma screening cohort (n=215) 4 patients with TRB were identified on screening MRI. All 4 patients showed bilateral disease, pineal gland tumors, and a latency period of at least 1 year. Three of the 4 were deceased by the end of the study. The incidence of TRB diagnosis was 1.9% (95% confidence interval [CI], 0.7%–4.9%). Of the 804 screening MRI scans performed on the screening cohort, 691 (86%) were unremarkable and 4 reported a lesion suspicious for TRB. The overall incidence of detecting TRB on screening MRI in the at-risk cohort was 0.5% (95% CI, 0.2%–1.3%) with a number needed to treat of 202. Conclusions: All cases of TRB in our center during the study period developed before the patient was 3 years of age and after a total of only 4 lifetime MRIs. Overall survival from TRB was not improved as a result of screening, and many false-positive results required additional, subsequent MRI scans with anesthesia. © 2019 American Academy of Ophthalmology
Keywords: cancer survival; child; preschool child; gene mutation; major clinical study; overall survival; cancer risk; conference paper; neuroimaging; nuclear magnetic resonance imaging; cohort analysis; cancer screening; retinoblastoma; mutational analysis; retrospective study; infant; medical record; retinoblastoma protein; genetic screening; diffusion weighted imaging; pineal body tumor; trilateral retinoblastoma; bilateral cancer; latent period; germline mutation; apparent diffusion coefficient; eye malformation; human; male; female; priority journal; hereditary tumor syndrome; eye dominance
Journal Title: Ophthalmology Retina
Volume: 4
Issue: 3
ISSN: 2468-6530
Publisher: Elsevier Inc.  
Date Published: 2020-03-01
Start Page: 327
End Page: 335
Language: English
DOI: 10.1016/j.oret.2019.10.010
PROVIDER: scopus
PUBMED: 31948910
DOI/URL:
Notes: Article -- Export Date: 1 April 2020 -- Source: Scopus
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  1. Ira J Dunkel
    371 Dunkel
  2. Jasmine Helen Francis
    256 Francis
  3. Sofia S Haque
    148 Haque
  4. David H Abramson
    389 Abramson
  5. Danielle Novetsky Friedman
    110 Friedman