诊断时即存在 H3K27 改变的弥漫性中线脑胶质瘤，伴多处骨和脊柱转移，极为罕见。
A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis.
机构信息
Department of Neurosurgery, School of Medicine, Medical Faculty, Klinikum rechts der Isar, Technical University Munich, Ismaninger Str. 22, 81675, Munich, Germany.
Department of Neuropathology, School of Medicine, Institute of Pathology, Technical University of Munich, Munich, Germany.
出版信息
BMC Neurol. 2023 Feb 28;23(1):87. doi: 10.1186/s12883-023-03135-4.
BACKGROUND
H3K27-altered diffuse midline gliomas are uncommon central nervous system tumors with extremely poor prognoses.
CASE PRESENTATION
We report the case of a 24-year-old man patient with multiple, inter alia osseous metastases who presented with back pain, hemi-hypoesthesia, and hemi-hyperhidrosis. The patient underwent combined radio-chemotherapy and demonstrated temporary improvement before deteriorating.
CONCLUSIONS
H3K27-altered diffuse midline glioma presents an infrequent but crucial differential diagnosis and should be considered in cases with rapid neurological deterioration and multiple intracranial and intramedullary tumor lesions in children and young adults. Combined radio-chemotherapy delayed the neurological deterioration, but unfortunately, progression occurred three months after the diagnosis.
背景
H3K27 改变的弥漫性中线脑胶质瘤是一种罕见的中枢神经系统肿瘤，预后极差。
病例介绍
我们报告了一例 24 岁男性患者，他患有多处骨转移，表现为背痛、半身感觉减退和半身多汗。患者接受了联合放化疗，在病情恶化前有暂时的改善。
结论
H3K27 改变的弥漫性中线脑胶质瘤是一种罕见但至关重要的鉴别诊断，在儿童和年轻成人中出现快速神经恶化和多发颅内及脊髓内肿瘤病变时应考虑该诊断。联合放化疗延迟了神经恶化，但不幸的是，在诊断后三个月病情仍出现进展。
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