伴H3K27M突变的脊髓弥漫性中线胶质瘤患者的临床特点和预后  

Clinical features and prognosis of spinal diffuse midline gliomas with H3K27M mutation

作　　者：张培海[1] 孙振兴[1] 刘慧婷[1] 王贵怀[1] Zhang Peihai;Sun Zhenxin;Liu Huiting;Wang Guihuai(Department of Neurosurgery,Beijing Tsinghua Changgung Hospital,Tsinghua University,Beijing 102218,China)

机构地区：[1]清华大学附属北京清华长庚医院神经外科,清华大学临床医学院,102218

出　　处：《中华神经外科杂志》2020年第11期1116-1120,共5页Chinese Journal of Neurosurgery

基　　金：北京清华长庚医院青年启动基金(12015C1044)。

摘　　要：目的探讨伴H3K27M突变的脊髓弥漫性中线胶质瘤患者的临床特点和手术预后。方法回顾性分析2015年5月至2017年10月清华大学附属北京清华长庚医院神经外科收治的12例伴H3K27M突变的脊髓弥漫性中线胶质瘤患者的临床资料。其中,男8例,女4例;年龄为(28.4±11.9)岁(10~53岁)。呼吸困难2例,肢体无力7例,肢体和躯体感觉障碍6例,小便功能障碍2例。所有患者均接受手术治疗,术后均予替莫唑胺化疗,无一例行放疗。通过门诊和电话随访评估患者的生存预后。结果12例患者中,肿瘤大部切除8例,近全切除4例。术后病理学结果提示,7例为胶质母细胞瘤,3例为间变性星形细胞瘤,2例为间变性少突胶质星形细胞瘤。12例患者术后均发生肿瘤复发,肿瘤以沿脊髓侵袭为主,2例出现脑转移。术后随访30个月,12例患者均死亡,中位生存时间(上、下四分位数)为18.0(5.0,22.8)个月。结论伴H3K27M突变的脊髓弥漫性中线胶质瘤以儿童和青年人多见,临床表现多样,其手术疗效差,患者的生存预后不佳。Objective To explore the clinical features and prognosis of spinal diffuse midline gliomas(SDMGs)with H3K27M mutation.Methods From May 2015 to October 2017,12 patients with SDMGs and H3K27M mutation were admitted to Department of Neurosurgery,Beijing Tsinghua Changgung Hospital and enrolled into this study.The clinical features,treatment methods and prognosis were analyzed retrospectively.The patients included 8 males and 4 females and the average age was 28.4±11.9 years(10-53 years).There were 2 cases of dyspnea,7 cases of limb weakness,6 cases of paresthesia in body and limbs,and 2 cases of urinary dysfunction.All 12 patients underwent surgical treatment and received temozolomide chemotherapy after surgery without radiotherapy.Survival time was evaluated by out-patient follow-up and telephone follow-up.Results Among the 12 patients,major resection of tumor was performed in 8 cases and near-total resection in 4 cases.Postoperative histological examination indicated glioblastoma in 7 cases,anaplastic astrocytoma in 3,and anaplastic oligoastrocytoma in 2.Tumor recurrence was reported in all patients post operation.The SDMGs mainly invaded along the spinal cords,and brain metastasis occurred in 2 cases.Twelve patients died within 30 months after operation.The mean(P25,P75)survival time was 18.0(5.0,22.8)months.Conclusions SDMGs have diverse clinical features,are mostly common in children and young people,and have poor surgical outcome and prognosis.

关 键 词：脊髓肿瘤 弥漫性中线胶质瘤 疾病特征 预后 H3K27M 

分 类 号：R739.41[医药卫生—肿瘤]