Correlation of gene expression with magnetic resonance imaging features of retinoblastoma: a multi-center radiogenomics validation study.

Autor: Jansen RW; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands. R.Jansen1@amsterdamumc.nl.; Cancer Center Amsterdam, Amsterdam, The Netherlands. R.Jansen1@amsterdamumc.nl., Roohollahi K; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Oncogenetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Uner OE; Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, USA.; Emory Eye Center, Ocular Oncology Service, Atlanta, USA., de Jong Y; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., de Bloeme CM; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands., Göricke S; Institute of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany., Sirin S; Department of Diagnostic Imaging, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Maeder P; Department of Radiology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Galluzzi P; Azienda Ospedaliera Universitaria Senese, Siena, Italy., Brisse HJ; Imaging Department, Institut Curie Paris, Paris, France., Cardoen L; Imaging Department, Institut Curie Paris, Paris, France., Castelijns JA; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., van der Valk P; Department of Pathology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Moll AC; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Grossniklaus H; Emory Eye Center, Ocular Oncology Service, Atlanta, USA., Hubbard GB; Emory Eye Center, Ocular Oncology Service, Atlanta, USA., de Jong MC; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands., Dorsman J; Cancer Center Amsterdam, Amsterdam, The Netherlands.; Department of Oncogenetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., de Graaf P; Department of Radiology and Nuclear Medicine, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Cancer Center Amsterdam, Amsterdam, The Netherlands.
Jazyk: angličtina
Zdroj: European radiology [Eur Radiol] 2024 Feb; Vol. 34 (2), pp. 863-872. Date of Electronic Publication: 2023 Aug 24.
DOI: 10.1007/s00330-023-10054-y
Abstrakt: Objectives: To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma.
Methods: In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis. Expression data from each center were first separately processed and analyzed. The end product normalized expression values from different sites were subsequently merged by their Z-score to permit cross-sites validation analysis. The MRI features were non-parametrically correlated with expression of photoreceptorness (radiogenomic analysis), a gene expression signature informing on disease progression. Outcomes were compared to outcomes in a previous described cohort.
Results: Thirty-six retinoblastoma patients were included, 15 were female (42%), and mean age was 24 (SD 18) months. Similar to the prior evaluation, this validation study showed that low photoreceptorness gene expression was associated with advanced stage imaging features. Validated imaging features associated with low photoreceptorness were multifocality, a tumor encompassing the entire retina or entire globe, and a diffuse growth pattern (all p < 0.05). There were a number of radiogenomic associations that were also not validated.
Conclusions: A part of the radiogenomic associations could not be validated, underlining the importance of validation studies. Nevertheless, cross-center validation of imaging features associated with photoreceptorness gene expression highlighted the capability radiogenomics to non-invasively inform on molecular subtypes in retinoblastoma.
Clinical Relevance Statement: Radiogenomics may serve as a surrogate for molecular subtyping based on histopathology material in an era of eye-sparing retinoblastoma treatment strategies.
Key Points: • Since retinoblastoma is increasingly treated using eye-sparing methods, MRI features informing on molecular subtypes that do not rely on histopathology material are important. • A part of the associations between retinoblastoma MRI features and gene expression profiles (radiogenomics) were validated. • Radiogenomics could be a non-invasive technique providing information on the molecular make-up of retinoblastoma.
(© 2023. The Author(s).)
Databáze: MEDLINE
Externí odkaz: