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Published on: November 11, 2021
Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma
Annika Hohm1,2,3, Michael Karremann4, Gerrit H Gielen5
1Neuroradiological Reference Center for the Pediatric Brain Tumor (HIT) Studies of the German Society of Pediatric Oncology and Hematology, Würzburg University Hospital, Würzburg, Germany.
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.
Insights
Histone H3 K27M mutations in pediatric diffuse midline glioma (pDMG) show distinct MRI characteristics compared to wildtype tumors. No significant imaging differences were found between H3.1 and H3.3 K27M mutant tumors, though H3.1 occurred at a younger age.
Area of Science:
- Neuro-oncology
- Radiology
- Molecular Pathology
Background:
- Histone H3 K27M mutations are linked to poor prognosis in pediatric diffuse midline glioma (pDMG).
- Detailed MRI characteristics based on H3 K27 mutation status and molecular subgroups (H3.1 vs. H3.3 K27M) are not well-defined.
Purpose of the Study:
- To investigate and compare MRI features of pDMG based on H3 K27 mutation status and molecular subgroups.
- To provide detailed imaging data for H3 K27M mutant pDMG in relation to molecular subgroups.
Main Methods:
- Retrospective review of standardized MRI parameters and epidemiological data from 68 pDMG patients (<18 years).
- Comparison of H3 K27M mutant vs. wildtype (WT) tumors.
- Comparison of H3.1 K27M mutant vs. H3.3 K27M mutant tumors.
Main Results:
- Significant differences in tumor localization, T2 signal intensity, and T1 signal homogeneity were observed between H3 K27M mutant and WT tumors.
- No significant imaging differences were found between H3.1 and H3.3 K27M mutant tumors, but H3.1 mutant tumors were associated with younger age.
- Spinal gliomas showed no significant imaging differences between molecular groups.
Conclusions:
- This study provides the first detailed MR imaging data for H3 K27M mutant pDMG concerning molecular subgroups in a large cohort.
- Findings may aid in pDMG diagnosis and inform future targeted therapeutic trials within a radiogenomics framework.
