MR Imaging Features to Differentiate Retinoblastoma from Coats’ Disease and Persistent Fetal Vasculature

SIMPLE SUMMARY: Retinoblastoma is a rare cancer that develops in the retina of children. Accurate differentiation between retinoblastoma and conditions that show similarities with retinoblastoma (pseudoretinoblastoma or retinoblastoma mimickers) is vital for guiding treatment. The most common pseudoretinoblastoma conditions are Coats’ disease and persistent fetal vasculature (PFV). In this study, we aimed to improve pretreatment differentiation between these diseases on MR imaging. We compared pre-treatment MR images of retinoblastoma, Coats’ disease and PFV on 20 predefined MR imaging features. An assessment strategy was proposed incorporating MR imaging features that best differentiate retinoblastoma from pseudoretinoblastoma, including three newly identified MR imaging features. ABSTRACT: Retinoblastoma mimickers, or pseudoretinoblastoma, are conditions that show similarities with the pediatric cancer retinoblastoma. However, false-positive retinoblastoma diagnosis can cause mistreatment, while false-negative diagnosis can cause life-threatening treatment delay. The purpose of this study is to identify the MR imaging features that best differentiate between retinoblastoma and the most common pseudoretinoblastoma diagnoses: Coats’ disease and persistent fetal vasculature (PFV). Here, six expert radiologists performed retrospective assessments (blinded for diagnosis) of MR images of patients with a final diagnosis based on histopathology or clinical follow-up. Associations between 20 predefined imaging features and diagnosis were assessed with exact tests corrected for multiple hypothesis testing. Sixty-six patients were included, of which 33 (50%) were retinoblastoma and 33 (50%) pseudoretinoblastoma patients. A larger eye size, vitreous seeding, and sharp-V-shaped retinal detachment were almost exclusively found in retinoblastoma (p < 0.001–0.022, specificity 93–97%). Features that were almost exclusively found in pseudoretinoblastoma included smaller eye size, ciliary/lens deformations, optic nerve atrophy, a central stalk between optic disc and lens, Y-shaped retinal detachment, and absence of calcifications (p < 0.001–0.022, specificity 91–100%). Additionally, three newly identified imaging features were exclusively present in pseudoretinoblastoma: intraretinal macrocysts (p < 0.001, 38% [9/24] in Coats’ disease and 20% [2/10] in PFV), contrast enhancement outside the solid lesion (p < 0.001, 30% [7/23] in Coats’ disease and 57% [4/7] in PFV), and enhancing subfoveal nodules (38% [9/24] in Coats’ disease). An assessment strategy was proposed for MR imaging differentiation between retinoblastoma and pseudoretinoblastoma, including three newly identified differentiating MR imaging features.