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Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma
Robin W Jansen1, Christiaan M de Bloeme1, Liesbeth Cardoen1
1From the Departments of Radiology and Nuclear Medicine (R.W.J., C.M.d.B., S.v.E., J.A.C., R.B., M.C.d.J., P.d.G.), Human Genetics (C.J.D.), Pathology (P.v.d.V.), Oncogenetics (J.D.), and Ophthalmology (A.C.M.), Amsterdam University Medical Center, Vrije Universiteit, Office PK-1X012, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands; Cancer Center Amsterdam, Amsterdam, the Netherlands (R.W.J., C.M.d.B., S.v.E., J.D., A.C.M., M.C.d.J., P.d.G.); European Retinoblastoma Imaging Collaboration (R.W.J., C.M.d.B., L.C., S.G., P.M., H.C.B., P.G., J.A.C., M.C.d.J., P.d.G.); Imaging Department, Institut Curie Paris, Paris, France (L.C., H.J.B.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.G.); Impact Genetics-Dynacare, Brampton, Canada (J.L.J.); Department of Ophthalmology, Phoenix Children's Hospital, Phoenix, Ariz (A.R.); Casey Eye Institute & Knight Cancer Institute, Oregon Health & Science University, Portland, Ore (A.H.S., A.K.M.); Department of Radiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland (P.M.); Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Ore (O.E.U.); Ocular Oncology Service, Emory Eye Center, Atlanta, Ga (O.E.U., G.B.H., H.G.); Department of Ophthalmology, University of Iowa Hospitals & Clinics, Iowa City, Iowa (H.C.B.); Department of Oncology, St Jude Children's Research Hospital, Memphis, Tenn (K.E.N., R.C.B.); Department of Pediatric Hematology/Oncology, Logan Health, Kalispell, Mont (R.C.B.); Department of Radiology and Imaging Sciences, Tata Medical Center, Kolkata, India (S. Sen); Department of Diagnostic Imaging, University Children's Hospital Zürich, Zürich, Switzerland (S. Sirin); and Azienda Ospedaliera Universitaria Senese, Siena, Italy (P.G.).
Abstract:
Background MYCN-amplified RB1 wild-type (MYCNARB1+/+) retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of MYCNARB1+/+ retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype. Materials and Methods In this retrospective, multicenter, case-control study, MRI scans in children with MYCNARB1+/+ retinoblastoma and age-matched children with RB1-/- subtype retinoblastoma were included (case-control ratio, 1:4; scans acquired from June 2001 to February 2021; scans collected from May 2018 to October 2021). Patients with histopathologically confirmed unilateral retinoblastoma, genetic testing (RB1/MYCN status), and MRI scans were included. Associations between radiologist-scored imaging features and diagnosis were assessed with the Fisher exact test or Fisher-Freeman-Halton test, and Bonferroni-corrected P values were calculated. Results A total of 110 patients from 10 retinoblastoma referral centers were included: 22 children with MYCNARB1+/+ retinoblastoma and 88 control children with RB1-/- retinoblastoma. Children in the MYCNARB1+/+ group had a median age of 7.0 months (IQR, 5.0-9.0 months) (13 boys), while children in the RB1-/- group had a median age of 9.0 months (IQR, 4.6-13.4 months) (46 boys). MYCNARB1+/+ retinoblastomas were typically peripherally located (in 10 of 17 children; specificity, 97%; P < .001) and exhibited plaque or pleomorphic shape (in 20 of 22 children; specificity, 51%; P = .011) with irregular margins (in 16 of 22 children; specificity, 70%; P = .008) and extensive retina folding with vitreous enclosure (specificity, 94%; P < .001). MYCNARB1+/+ retinoblastomas showed peritumoral hemorrhage (in 17 of 21 children; specificity, 88%; P < .001), subretinal hemorrhage with a fluid-fluid level (in eight of 22 children; specificity, 95%; P = .005), and strong anterior chamber enhancement (in 13 of 21 children; specificity, 80%; P = .008). Conclusion MYCNARB1+/+ retinoblastomas show distinct MRI features that could enable early identification of these tumors. This may improve patient selection for tailored treatment in the future. © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Rollins in this issue.
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