MR Imaging Features of Retinoblastoma: Association with Gene Expression Profiles.

Autor:	Jansen RW; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., de Jong MC; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Kooi IE; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Sirin S; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Göricke S; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Brisse HJ; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Maeder P; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Galluzzi P; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., van der Valk P; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Cloos J; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Eekhout I; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Castelijns JA; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Moll AC; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., Dorsman JC; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.)., de Graaf P; From the Departments of Radiology and Nuclear Medicine (R.W.J., M.C.d.J., J.A.C., P.d.G.), Clinical Genetics (I.E.K., J.C.D.), Ophthalmology (A.C.M.), Pathology (P.v.d.V.), Pediatric Oncology (J.C.), and Epidemiology and Biostatistics (I.E.), VU University Medical Center, PO Box 7057, 1007 MB Amsterdam, the Netherlands; European Retinoblastoma Imaging Collaboration (ERIC) (R.W.J., M.C.d.J., S.S., S.G., H.J.B., P.M., P.G., J.A.C., P.d.G.); Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany (S.S., S.G.); Department of Radiology, Institut Curie, Paris, France and Paris Sciences et Lettres Research University, Paris, France (H.J.B.); Department of Radiology, Centre Hospitalier Universitaire Vaudois (CHUV) and University of Lausanne, Lausanne, Switzerland (P.M.); and Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Siena University Hospital, Siena, Italy (P.G.).
Jazyk:	angličtina
Zdroj:	Radiology [Radiology] 2018 Aug; Vol. 288 (2), pp. 506-515. Date of Electronic Publication: 2018 May 01.
DOI:	10.1148/radiol.2018172000
Abstrakt:	Purpose To identify associations between magnetic resonance (MR) imaging features and gene expression in retinoblastoma. Materials and Methods A retinoblastoma MR imaging atlas was validated by using anonymized MR images from referral centers in Essen, Germany, and Paris, France. Images were from 39 patients with retinoblastoma (16 male and 18 female patients [the sex in five patients was unknown]; age range, 5-90 months; inclusion criterion: pretreatment MR imaging). This atlas was used to compare MR imaging features with genome-wide messenger RNA (mRNA) expression data from 60 consecutive patients obtained from 1995 to 2012 (35 male patients [58%]; age range, 2-69 months; inclusion criteria: pretreatment MR imaging, genome-wide mRNA expression data available). Imaging pathway associations were analyzed by means of gene enrichment. In addition, imaging features were compared with a predefined gene expression signature of photoreceptorness. Statistical analysis was performed with generalized linear modeling of radiology traits on normalized log2-transformed expression values. P values were corrected for multiple hypothesis testing. Results Radiogenomic analysis revealed 1336 differentially expressed genes for qualitative imaging features (threshold P = .05 after multiple hypothesis correction). Loss of photoreceptorness gene expression correlated with advanced stage imaging features, including multiple lesions (P = .03) and greater eye size (P < .001). The number of lesions on MR images was associated with expression of MYCN (P = .04). A newly defined radiophenotype of diffuse-growing, plaque-shaped, multifocal tumors displayed overexpression of SERTAD3 (P = .003, P = .049, and P = .06, respectively), a protein that stimulates cell growth by activating the E2F network. Conclusion Radiogenomic biomarkers can potentially help predict molecular features, such as photoreceptorness loss, that indicate tumor progression. Results imply a possible role for radiogenomics in future staging and treatment decision making in retinoblastoma. (© RSNA, 2018 Online supplemental material is available for this article.)
Databáze:	MEDLINE
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