H3 K27M-mutant diffuse midline gliomas in different anatomical locations

作者：Wang, Leiming; Li, Zhuo; Zhang, Ming; Piao, Yueshan; Chen, Li; Liang, Huiying; Wei, Yukui; Hu, Zeliang; Zhao, Lihong; Teng, Lianghong^*; Lu, Dehong^*

来源：Human Pathology, 2018, 78: 89-96.

DOI：10.1016/j.humpath.2018.04.015

• H3 K27M
• Glioma
• IDH
• Overall survival
• ATRX

The histone H3 K27M mutation has been frequently reported in most diffuse midline gliomas. However, the relationship between the H3 K27M mutation and clinical outcomes of gliomas from different anatomical locations is still not fully understood. A total of 120 patients with diffuse midline gliomas were selected for this retrospective observational study. The status of H3 K27M, ATRX, TP53, and IDH was evaluated using immunohistochemistry and Sanger sequencing. Of the 120 patients aged from 4 to 76 years (median, 27 years), 61 (50.8%) were harboring the H3 K27M mutation. Tumors were mainly located in the brainstem, ATRX thalamus, and spinal cord, but also in the cerebellum, corpus callosum, and the lateral ventricle. Patients with H3 K27M mutant diffuse midline gliomas had a significantly shorter overall survival than H3 wild-type counterparts (P=.001). However, the H3 K27M mutation was mainly associated with a poorer prognosis in infratentorial gliomas compared with the corresponding H3 wild-type gliomas (P<.0001), but not in supratentorial gliomas (P=.603). Moreover, patients with H3 K27M mutant gliomas in unusual anatomical locations had a better prognosis than did those with corresponding tumors in the brainstem. This study may provide guidance for better treatment stratification decisions for diffuse gliomas bearing the H3 K27M mutation, which arise in different locations of the brainstem, thalamus, spinal cord, or other sites.

• 出版日期2018-8
• 单位广州市妇女儿童医疗中心; 首都医科大学; 北京大学; 广州医科大学