髓内弥漫性中线胶质瘤伴H3 K27M突变1例

Diffuse midline glioma with H3 K27M mutation in the spinal cord: a case report

目的探讨髓内弥漫性中线胶质瘤伴H3K27M突变的临床特征及治疗方式。方法回顾性分析1例髓内弥漫性中线胶质瘤伴H3K27M突变的诊断及治疗过程,并对相关文献进行复习。结果予以手术切除肿瘤,肿瘤组织与脊髓边界不清,尤其是肿瘤与马尾粘连严重,难以完全剥离清除。结合肿瘤的组织学特征、免疫组化、分子检测,诊断为弥漫性中线胶质瘤伴H3K27M突变,符合WHOⅣ级。术后患者虽腰背部疼痛较前缓解,但预后极差,最终复发死亡。结合文献复习,该肿瘤主要见于儿童,也见于成人,预后普遍较差。该肿瘤主要浸润于丘脑、脑干和脊髓,也可发现在第三脑室、下丘脑、松果体和小脑。结论尽管现代医学有了长足发展,但对该肿瘤仍缺乏有效的治疗手段,2年的总生存率仍然低于10%。

Objective To explore the clinical characteristics and treatment of diffuse midline glioma with H3 K27 M mutation.Methods The diagnosis and treatment of a case of diffuse midline glioma with H3 K27 M mutation were retrospectively analyzed and relevant literature was reviewed.Results The tumor was resected.The boundary between tumor tissues and spinal cord was unclear.The adhesion between tumor and cauda equina was especially hard to strip.Based on the histological characteristics,immunohistochemistry and molecular identification,the tumor was diagnosed as WHO IV diffuse midline glioma with H3 K27 M mutation.Although the patient’s back pain was relieved after operation,the prognosis was very poor,and the patient finally died of relapse.Literature review indicated the glioma was primarily found in children and occasionally seen in adults with poor prognosis.The glioma mainly infiltrated the thalamus,brainstem and spinal cord,sometimes the third ventricle,hypothalamus,pineal body and cerebellum.Conclusion Effective treatment of the glioma remains to be explored in spite of advances in modern therapies.The glioma is universally fatal and the 2-year overall survival rate is below 10%.