H3 K27M 突变型“非中线”胶质母细胞瘤的分子和临床特征：一例病例报告及文献复习。
Molecular and clinical characterization of H3 K27M-mutant "non-midline" glioblastoma: A case report and literature review.
机构信息
Department of Neurosurgery, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan; Department of Neurosurgery, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.
Department of Neurosurgery, National Hospital Organization Kure Medical Center and Chugoku Cancer Center, Hiroshima, Japan.
出版信息
Neurocirugia (Astur : Engl Ed). 2022 Nov-Dec;33(6):356-360. doi: 10.1016/j.neucie.2021.06.008.
The WHO classification of tumors of the CNS in 2016 defined "diffuse midline glioma, H3 K27M-mutant" as a new tumor entity locating in the CNS midline. However, the H3 K27M-mutation in "non-midline" glioblastoma are rare and their characteristics have been rarely reported. A 16-year-old girl presented a hyper-intense lesion at her left temporal stem on T2WI, FLAIR and DWI. Biopsy was performed and molecular pathological diagnosis was glioblastoma with H3 K27M-mutant. Accordingly, the possibility of H3 K27M-mutant should be examined not only for diffuse glioma without IDH mutation that develops at a midline location, but also in non-midline locations.
2016 年世界卫生组织中枢神经系统肿瘤分类将“弥漫性中线胶质瘤，H3 K27M 突变型”定义为一种新的位于中枢神经系统中线的肿瘤实体。然而，“非中线”胶质母细胞瘤中 H3 K27M 突变非常罕见，其特征很少被报道。一名 16 岁女孩的 T2WI、FLAIR 和 DWI 显示左侧颞干有高信号病变。进行了活检，分子病理诊断为 H3 K27M 突变型胶质母细胞瘤。因此，不仅对于发生在中线位置且无 IDH 突变的弥漫性胶质瘤，而且对于非中线位置，都应检查 H3 K27M 突变的可能性。
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