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MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma.
Jansen, Robin W; de Bloeme, Christiaan M; Cardoen, Liesbeth; Göricke, Sophia; van Elst, Sabien; Jessen, Jaime Lyn; Ramasubramanian, Aparna; Skalet, Alison H; Miller, Audra K; Maeder, Philippe; Uner, Ogul E; Hubbard, G Baker; Grossniklaus, Hans; Boldt, H Culver; Nichols, Kim E; Brennan, Rachel C; Sen, Saugata; Sirin, Selma; Brisse, Hervé J; Galluzzi, Paolo; Dommering, Charlotte J; Castelijns, Jonas A; van der Valk, Paul; Boellaard, Ronald; Dorsman, Josephine; Moll, Annette C; de Jong, Marcus C; de Graaf, Pim.
Afiliação
  • Jansen RW; From 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 11
  • de Bloeme CM; From 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 11
  • Cardoen L; From 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 11
  • Göricke S; From 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 11
  • van Elst S; From 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 11
  • Jessen JL; From 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 11
  • Ramasubramanian A; From 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 11
  • Skalet AH; From 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 11
  • Miller AK; From 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 11
  • Maeder P; From 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 11
  • Uner OE; From 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 11
  • Hubbard GB; From 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 11
  • Grossniklaus H; From 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 11
  • Boldt HC; From 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 11
  • Nichols KE; From 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 11
  • Brennan RC; From 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 11
  • Sen S; From 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 11
  • Sirin S; From 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 11
  • Brisse HJ; From 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 11
  • Galluzzi P; From 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 11
  • Dommering CJ; From 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 11
  • Castelijns JA; From 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 11
  • van der Valk P; From 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 11
  • Boellaard R; From 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 11
  • Dorsman J; From 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 11
  • Moll AC; From 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 11
  • de Jong MC; From 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 11
  • de Graaf P; From 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 11
Radiology ; 307(5): e222264, 2023 06.
Article em En | MEDLINE | ID: mdl-37191489
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinoblastoma / Neoplasias da Retina Tipo de estudo: Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans Idioma: En Revista: Radiology Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinoblastoma / Neoplasias da Retina Tipo de estudo: Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans Idioma: En Revista: Radiology Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos