Antonia Ramaglia1,2, Domenico Tortora3, Kshitij Mankad4, Maarten Lequin5, Mariasavina Severino3, Felice D'Arco4, Ulrike Löbel4, Massimo Benenati1,2, Wendy W J de Leng6, Patrizia De Marco7, Claudia Milanaccio8, Andrea Rossi3, Giovanni Morana9. 1. Fondazione Policlinico Universitario "A. Gemelli" IRCCS, UOC Radiodiagnostica e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia, Oncologia ed Ematologia, Roma, Italia. 2. Università Cattolica del Sacro Cuore, Istituto di Radiologia, Roma, Italia. 3. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, via G. Gaslini 5, I-16147, Genova, Italy. 4. Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. 5. Department of Radiology, University Medical Center, Utrecht, The Netherlands. 6. Department of Pathology, University Medical Center, Utrecht, The Netherlands. 7. Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto Giannina Gaslini, Genova, Italy. 8. Neuro-oncology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy. 9. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, via G. Gaslini 5, I-16147, Genova, Italy. giovannimorana@gaslini.org.
Abstract
PURPOSE: BRAF V600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. The aim of this retrospective multicenter study was to analyze imaging features of BRAF V600E-mutant and wild-type cerebral pilocytic astrocytomas (PAs) and gangliogliomas (GGs), focusing on the role of diffusion weighted imaging (DWI). METHODS: We retrospectively evaluated 56 pediatric patients with histologically proven, treatment-naïve PAs and GGs who underwent conventional MRI, DWI, and molecular analysis for BRAF V600E mutation. Twenty-three subjects presented BRAF V600E-mutant (12 PAs and 11 GGs) and 33 BRAF V600E wild-type (26 PAs and 7 GGs) tumors. Imaging studies were reviewed for dominant site, margin definition, hemorrhage, calcification, cystic components, contrast enhancement, and relative mean and minimum ADC values (rADCmean and rADCmin). Statistics included Fisher's exact test, Student t test, general linear model, and receiver operating characteristic (ROC) analysis. RESULTS: PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. ROC analysis demonstrated similar performances between these parameters in predicting BRAF V600E status (rADCmean: AUC 0.831, p < 0.001; rADCmin: AUC 0.885, p < 0.001). No significant differences regarding additional imaging features emerged between BRAF V600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAF V600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAF V600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.
PURPOSE:BRAFV600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. The aim of this retrospective multicenter study was to analyze imaging features of BRAFV600E-mutant and wild-type cerebral pilocytic astrocytomas (PAs) and gangliogliomas (GGs), focusing on the role of diffusion weighted imaging (DWI). METHODS: We retrospectively evaluated 56 pediatric patients with histologically proven, treatment-naïve PAs and GGs who underwent conventional MRI, DWI, and molecular analysis for BRAFV600E mutation. Twenty-three subjects presented BRAFV600E-mutant (12 PAs and 11 GGs) and 33 BRAFV600E wild-type (26 PAs and 7 GGs) tumors. Imaging studies were reviewed for dominant site, margin definition, hemorrhage, calcification, cystic components, contrast enhancement, and relative mean and minimum ADC values (rADCmean and rADCmin). Statistics included Fisher's exact test, Student t test, general linear model, and receiver operating characteristic (ROC) analysis. RESULTS: PA and GG BRAFV600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. ROC analysis demonstrated similar performances between these parameters in predicting BRAFV600E status (rADCmean: AUC 0.831, p < 0.001; rADCmin: AUC 0.885, p < 0.001). No significant differences regarding additional imaging features emerged between BRAFV600E-mutant and wild-type lesions, with the exception of the number of tumors with cystic components, significantly higher in BRAFV600E-mutant PAs (p = 0.011) CONCLUSION: Assessment of the DWI characteristics of GGs and PAs may assist in predicting BRAFV600E status, suggesting a radiogenomic correlation and prompt molecular characterization of these tumors.
Authors: Shivaram Avula; Andrew Peet; Giovanni Morana; Paul Morgan; Monika Warmuth-Metz; Tim Jaspan Journal: Childs Nerv Syst Date: 2021-05-10 Impact factor: 1.475
Authors: Arnoldo Piccardo; Nathalie L Albert; Lise Borgwardt; Frederic H Fahey; Darren Hargrave; Norbert Galldiks; Nina Jehanno; Lars Kurch; Ian Law; Ruth Lim; Egesta Lopci; Lisbeth Marner; Giovanni Morana; Tina Young Poussaint; Victor J Seghers; Barry L Shulkin; Katherine E Warren; Tatjana Traub-Weidinger; Pietro Zucchetta Journal: Eur J Nucl Med Mol Imaging Date: 2022-05-10 Impact factor: 10.057