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Research ArticlePEDIATRICS
Open Access

Imaging Characteristics of Pediatric Diffuse Midline Gliomas with Histone H3 K27M Mutation

M.S. Aboian, D.A. Solomon, E. Felton, M.C. Mabray, J.E. Villanueva-Meyer, S. Mueller and S. Cha
American Journal of Neuroradiology February 2017, DOI: https://doi.org/10.3174/ajnr.A5076
M.S. Aboian
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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D.A. Solomon
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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E. Felton
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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M.C. Mabray
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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J.E. Villanueva-Meyer
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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S. Mueller
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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S. Cha
From the Department of Radiology (M.S.A., E.F., M.C.M., J.E.V.-M., S.C.); Division of Neuropathology (D.A.S.), Department of Pathology; Division of Pediatric Hematology/Oncology (S.M.), Department of Pediatrics; Department of Neurological Surgery (S.M.); and Division of Child Neurology (S.M.), Department of Neurology, University of California, San Francisco, San Francisco, California.
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Abstract

BACKGROUND AND PURPOSE: The 2016 World Health Organization 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 MR imaging characteristics of this new tumor entity in pediatric patients.

MATERIALS AND METHODS: We retrospectively reviewed imaging features of pediatric patients with midline gliomas with or without the histone H3 K27 mutation. We evaluated the imaging features of these tumors on the basis of location, enhancement pattern, and necrosis.

RESULTS: Among 33 patients with diffuse midline gliomas, histone H3 K27M mutation was present in 24 patients (72.7%) and absent in 9 (27.3%). Of the tumors, 27.3% (n = 9) were located in the thalamus; 42.4% (n = 14), in the pons; 15% (n = 5), within the vermis/fourth ventricle; and 6% (n = 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 we compared diffuse midline gliomas on the basis of 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.

CONCLUSIONS: We describe, for the first time, the MR imaging features of pediatric diffuse midline gliomas with histone H3 K27M mutation. Similar to the heterogeneous histologic features among these tumors, they also have a diverse imaging appearance without distinguishing features from histone H3 wildtype diffuse gliomas.

  • © 2017 American Society of Neuroradiology

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Imaging Characteristics of Pediatric Diffuse Midline Gliomas with Histone H3 K27M Mutation
M.S. Aboian, D.A. Solomon, E. Felton, M.C. Mabray, J.E. Villanueva-Meyer, S. Mueller, S. Cha
American Journal of Neuroradiology Feb 2017, DOI: 10.3174/ajnr.A5076

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Imaging Characteristics of Pediatric Diffuse Midline Gliomas with Histone H3 K27M Mutation
M.S. Aboian, D.A. Solomon, E. Felton, M.C. Mabray, J.E. Villanueva-Meyer, S. Mueller, S. Cha
American Journal of Neuroradiology Feb 2017, DOI: 10.3174/ajnr.A5076
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