Faculty Collaboration Database

MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma. Radiology 2023 Jun;307(5):e222264

Date

05/16/2023

Pubmed ID

37191489

Pubmed Central ID

PMC10315525

DOI

10.1148/radiol.222264

Scopus ID

2-s2.0-85164041175 (requires institutional sign-in at Scopus site)   3 Citations

Abstract

Background MYCN-amplified RB1 wild-type (MYCN^ARB1^+/+) 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 MYCN^ARB1^+/+ 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 MYCN^ARB1^+/+ 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 MYCN^ARB1^+/+ retinoblastoma and 88 control children with RB1^-/- retinoblastoma. Children in the MYCN^ARB1^+/+ 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). MYCN^ARB1^+/+ 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). MYCN^ARB1^+/+ 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 MYCN^ARB1^+/+ 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.

Author List

Jansen RW, de Bloeme CM, Cardoen L, Göricke S, van Elst S, Jessen JL, Ramasubramanian A, Skalet AH, Miller AK, Maeder P, Uner OE, Hubbard GB, Grossniklaus H, Boldt HC, Nichols KE, Brennan RC, Sen S, Sirin S, Brisse HJ, Galluzzi P, Dommering CJ, Castelijns JA, van der Valk P, Boellaard R, Dorsman J, Moll AC, de Jong MC, de Graaf P

Author

Aparna Ramasubramanian MD Associate Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Case-Control Studies
Humans
N-Myc Proto-Oncogene Protein
Retinal Neoplasms
Retinoblastoma
Retinoblastoma Binding Proteins
Retrospective Studies
Ubiquitin-Protein Ligases