Department of Medical Oncology, Cancer Center, West China Hospital, West China Medical School, Sichuan University, Sichuan, P.R. China.
Eur Rev Med Pharmacol Sci. 2020 Mar;24(5):2579-2584. doi: 10.26355/eurrev_202003_20527.
Diffuse midline glioma with H3K27M mutation is a new tumor type of WHO central nervous system tumor classification. It often occurs in the midline structure and usually has a poor prognosis.
A 38-year-old male patient presented with 2 years history of right limb with facial numbness, tumors in the left thalamic region and lateral ventricle was detected by imaging. The patient underwent the first surgery.
The pathological examination results: Glioblastoma. He recovered well after surgery and received a total of 30 times of radiotherapy and temozolomide for one year. Fourteen months later, tumours were observed in the left thalamic region and left parieto-occipital lobe, the patient underwent the second operation. Immunohistochemistry showed: H3K27M(+). He experienced limitation of right limb movement after surgery and started taking oral apatinib 250 mg qd. After one-year, multiple tumors were found in the left brainstem, bilateral ventricles, bilateral basal ganglia, etc. The patient was given radiotherapy 7 times and then took apatinib 250 mg qd. Now the patient is still alive.
H3K27M mutant diffuse midline glioma is characterized by diffuse infiltrative growth. Its pathological classification is diverse, imaging features lack specificity, and prognostic factors are complex. Traditional radiochemotherapy has limited effects, molecular targeted therapy, especially intervention of epigenetic regulation is being explored.
H3K27M 突变弥漫性中线神经胶质瘤是世界卫生组织中枢神经系统肿瘤分类中的一种新型肿瘤类型。它常发生于中线结构，通常预后较差。
一名 38 岁男性患者，因右侧肢体麻木 2 年就诊，影像学检查发现左侧丘脑区和侧脑室肿瘤。患者接受了首次手术。
病理检查结果：胶质母细胞瘤。术后患者恢复良好，接受了共 30 次放疗和替莫唑胺治疗 1 年。14 个月后，观察到左侧丘脑区和左顶枕叶肿瘤，患者接受了第二次手术。免疫组化显示：H3K27M（+）。术后患者出现右侧肢体运动受限，开始口服阿帕替尼 250mg qd。1 年后，左侧脑桥、双侧脑室、双侧基底节等多处发现肿瘤。患者接受了 7 次放疗，随后开始口服阿帕替尼 250mg qd。目前患者仍存活。
H3K27M 突变弥漫性中线神经胶质瘤以弥漫性浸润性生长为特征。其病理分类多样，影像学特征缺乏特异性，预后因素复杂。传统的放化疗效果有限，分子靶向治疗，特别是表观遗传调控的干预正在探索中。
