Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma

• Main Authors: Bison, B. (Author), Gielen, G.H (Author), Hoffmann, M. (Author), Hohm, A. (Author), Karremann, M. (Author), Kramm, C.M (Author), Nowak, J. (Author), Pham, M. (Author), Pietsch, T. (Author), Stock, A. (Author), Vandergrift, L.A (Author), Warmuth-Metz, M. (Author)
• Format: Article
• Language: English
• Published: Springer Science and Business Media Deutschland GmbH 2022
• Subjects: adolescent; Adolescent; Brain Neoplasms; brain tumor; child; Child; diagnostic imaging; genetics; glioma; Glioma; histone; Histones; human; Humans; Imaging; Magnetic Resonance Imaging; Molecular subgroups; nuclear magnetic resonance imaging; pathology; Pediatric brain tumors; Radiogenomics; Retrospective Studies; retrospective study; WHO classification
• Online Access: View Fulltext in Publisher
• Physical Description: 10
• ISBN: 18691439 (ISSN)
• DOI: 10.1007/s00062-021-01120-3

Purpose: Recent research identified histone H3 K27M mutations to be associated with a dismal prognosis in pediatric diffuse midline glioma (pDMG); however, data on detailed MRI characteristics with respect to H3 K27 mutation status and molecular subgroups (H3.1 and H3.3 K27M mutations) are limited. Methods: Standardized magnetic resonance imaging (MRI) parameters and epidemiologic data of 68 pDMG patients (age <18 years) were retrospectively reviewed and compared in a) H3 K27M mutant versus H3 K27 wildtype (WT) tumors and b) H3.1 versus H3.3 K27M mutant tumors. Results: Intracranial gliomas (n = 58) showed heterogeneous phenotypes with isointense to hyperintense signal in T2-weighted images and frequent contrast enhancement. Hemorrhage and necrosis may be present. Comparing H3 K27M mutant to WT tumors, there were significant differences in the following parameters: i) tumor localization (p = 0.001), ii) T2 signal intensity (p = 0.021), and iii) T1 signal homogeneity (p = 0.02). No significant imaging differences were found in any parameter between H3.1 and H3.3 K27M mutant tumors; however, H3.1 mutant tumors occurred at a younger age (p = 0.004). Considering spinal gliomas (n = 10) there were no significant imaging differences between the analyzed molecular groups. Conclusion: With this study, we are the first to provide detailed MR imaging data on H3 K27M mutant pDMG with respect to molecular subgroup status in a large patient cohort. Our findings may support diagnosis and future targeted therapeutic trials of pDMG within the framework of the radiogenomics concept. © 2021, The Author(s).