Imaging Characteristics of Pediatric Diffuse Midline Gliomas with Histone H3 K27M Mutation.
Imaging Characteristics of Pediatric Diffuse Midline Gliomas with Histone H3 K27M Mutation.
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DOI：
10.3174/ajnr.a5076
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发表时间：
2017-04
期刊：
影响因子：
--
通讯作者：
Cha S
中科院分区：
文献类型：
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作者：
Aboian MS;Solomon DA;Felton E;Mabray MC;Villanueva-Meyer JE;Mueller S;Cha S
2016年世界卫生组织中枢神经系统肿瘤分类将“组蛋白H3 K27M突变的弥漫性中线胶质瘤”作为新的诊断实体。我们描述了儿科患者中这种新肿瘤实体的磁共振（MR）成像特征。我们回顾性评价了有或没有组蛋白 H3 K27 突变的中线胶质瘤儿科患者的影像学特征。我们根据位置、增强模式和坏死评估了这些肿瘤的影像学特征。在33例弥漫性中线胶质瘤患者中，24例（72.7%）存在组蛋白H3 K27M突变，9例（27.3%）不存在组蛋白H3 K27M突变。 27.3% (9) 的肿瘤位于丘脑，42.4% (14) 位于脑桥，15% (5) 位于蚓部/第四脑室，6% (2) 位于脊髓。具有组蛋白 H3 K27M 突变的弥漫性中线胶质瘤的影像学特征差异很大，从无强化或坏死且周围有大面积浸润性生长的扩张肿块，到周围强化肿块并伴有中心坏死，具有显着的肿块效应，但周围 T2/FLAIR 高信号很少。当根据组蛋白 H3 K27M 突变的存在与否来比较弥漫性中线胶质瘤时，增强或边界特征、浸润性外观或水肿的存在之间没有显着相关性。我们首次描述了具有组蛋白 H3 K27M 突变的弥漫性中线胶质瘤的 MR 成像特征。与这些肿瘤的异质组织学特征相似，它们也表现出多样化的成像外观，但与组蛋白 H3 野生型弥漫性胶质瘤没有区别。
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. 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. 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. 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.