TY - JOUR
T1 - MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma
AU - Jansen, Robin W.
AU - de Bloeme, Christiaan M.
AU - Cardoen, Liesbeth
AU - Göricke, Sophia
AU - van Elst, Sabien
AU - Jessen, Jaime Lyn
AU - Ramasubramanian, Aparna
AU - Skalet, Alison H.
AU - Miller, Audra K.
AU - Maeder, Philippe
AU - Uner, Ogul E.
AU - Hubbard, G. Baker
AU - Grossniklaus, Hans
AU - Boldt, H. Culver
AU - Nichols, Kim E.
AU - Brennan, Rachel C.
AU - Sen, Saugata
AU - Sirin, Selma
AU - Brisse, Hervé J.
AU - Galluzzi, Paolo
AU - Dommering, Charlotte J.
AU - Castelijns, Jonas A.
AU - van der Valk, Paul
AU - Boellaard, Ronald
AU - Dorsman, Josephine
AU - Moll, Annette C.
AU - de Jong, Marcus C.
AU - de Graaf, Pim
N1 - Publisher Copyright:
© RSNA, 2023.
PY - 2023/6
Y1 - 2023/6
N2 - 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.
AB - 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.
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U2 - 10.1148/radiol.222264
DO - 10.1148/radiol.222264
M3 - Article
C2 - 37191489
AN - SCOPUS:85164041175
SN - 0033-8419
VL - 307
JO - RADIOLOGY
JF - RADIOLOGY
IS - 5
M1 - e222264
ER -