Purpose
The 2016 WHO Classification of Tumors of the Central Nervous System includes “diffuse midline glioma with histone H3 K27M mutation” as a new diagnostic entity. We describe the magnetic resonance (MR) imaging characteristics of this new tumor entity in pediatric patients.
Methods
We retrospectively reviewed imaging features of pediatric patients with midline gliomas with or without histone H3 K27 mutation. We evaluated the imaging features of these tumors based on location, enhancement pattern, and necrosis.
Results
Amongst 33 patients with diffuse midline gliomas, histone H3 K27M mutation was present in 24 cases (72.7%) and absent in 9 patients (27.3%). 27.3% (9) of tumors were located in the thalamus, 42.4% (14) in the pons, 15% (5) within vermis/4th ventricle, and 6% (2) in the spinal cord. The radiographic features of diffuse midline gliomas with histone H3 K27M mutation were highly variable, ranging from expansile masses without enhancement or necrosis with large areas of surrounding infiltrative growth, to peripherally enhancing masses with central necrosis with significant mass effect but little surrounding T2/FLAIR hyperintensity. When comparing diffuse midline gliomas based on the presence or absence of histone H3 K27M mutation, there was no significant correlation between enhancement or border characteristics, infiltrative appearance, or presence of edema.
Conclusion
We describe for the first time the MR imaging features of diffuse midline gliomas with histone H3 K27M mutation. Similar to the heterogeneous histologic features amongst these tumors, they also display a diverse imaging appearance without distinguishing features from histone H3 wildtype diffuse gliomas.
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