伴H3 K27M突变的儿童弥漫性中线胶质瘤的临床特点、治疗及预后  

Clinical features,treatments and outcomes of pediatric diffuse midline gliomas with H3 K27M mutation

作　　者：王佳 许朗宁 葛明[1] 冀园琦[1] 孙骇浪[1] 齐翔[1] 张楠[2] 彭芸[3] Wang Jia;Xu Langning;Ge Ming;Ji Yuanqi;Sun Hailang;Qi Xiang;Zhang Nan;Peng Yun(Department of Neurosurgery,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Pathology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;Department of Medical Imaging,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院神经外科,100045 [2]国家儿童医学中心,首都医科大学附属北京儿童医院病理科,100045 [3]国家儿童医学中心,首都医科大学附属北京儿童医院影像中心,100045

出　　处：《中华神经外科杂志》2021年第2期118-122,共5页Chinese Journal of Neurosurgery

摘　　要：目的探讨伴H3 K27M突变的儿童弥漫性中线胶质瘤(DMG)的临床特点、治疗及预后。方法回顾性分析2017年7月至2020年3月首都医科大学附属北京儿童医院神经外科收治的10例DM G伴H3 K27M突变患儿的临床资料。10例患儿中,病变位于丘脑4例,脑干4例,脊髓2例,其中行开颅肿瘤切除术7例,脊髓肿瘤切除术2例,颅内病变活组织检查术1例4例术后行放疗联合化疗,1例行单纯放疗,5例未行放疗或化疗以肿瘤切除率>90%为近全切除,50%~90%为部分切除。术后随访至2020年7月或患儿死亡,随访患儿肿瘤有无进展、生存时间以及死亡原因。结果10例患儿的中位发病年龄为8.9(4.9~9.9)岁,颅内占位临床表现为头痛、恶心、呕吐、肢体无力、癫痫发作、意识障碍及脑神经麻痹;脊髓占位临床表现为进行性肢体无力。肿瘤近全切除4例,部分切除5例,活组织检查术1例。患儿术后症状改善6例,无改变4例;无一例出现中枢神经系统感染;1例在术后放疗期间出现脑积水10例患儿的肿瘤病理学结果均为DMG伴H3 K27M突变(世界卫生组织肿瘤分级Ⅳ级);免疫组织化学检测结果显示,少突胶质细胞转录因子2阳性比例为9/9,胶质纤维酸性蛋白阳性比例为10/10,突变型异柠檬酸脱氢酶1阳性比例为0/9,Ki-67≥40%的比例为8/10。10例患儿术后均得到有效随访;随访时间为1~23个月至末次随访,2例患儿存活,8例患儿因肿瘤进展死亡,生存时间为1~23个月结论初步观察发现,伴H3 K27M突变的儿童DMG临床表现多样,可选择手术、术后放疗和(或)化疗治疗,患儿的生存预后差。Objective To explore the clinical features,treatments and outcomes of pediatric diffuse niidline gliomas(DMG)with H3 K27M mutation.Methods A retrospective study was conducted on the clinical data of 10 pediatric patients diagnosed as DMG with H3 K27M mutation who were admitted and treated at Neurosurgery Department of Beijing Children's Hospital,Capital Medical University between July 2017 and March 2020.Among the 10 children,the location of tumor was at the thalamus in 4 cases,brainstem in 4 cases and spinal cord in 2 cases.All patients underwent surgical treatment,including craniotomy and tumor resection in 7 cases,spinal cord tumor resection in 2 cases and intracranial lesion biopsy in 1 case.Four patients underwent postoperative radiotherapy combined with chemotherapy,1 underwent radiotherapy alone,and 5 did not undergo radiotherapy or chemotherapy.Subtotal tumor resection is defined as tumor resection rate >90%.Partial tumor resection is defined as tumor resection rate is between 50% to 90%.Tumor progression,survival time and cause of death were followed up through telephone.Results The median age of 10 cases was 8.9 years(4.9-9.9 years)old.The clinical manifestations of intracranial space occupying lesions included headache,nausea,vomiting,limb weakness,epileptic seizure,disturbance of consciousness and cerebral palsy.The clinical manifestation of spinal space occupying lesion was progressive limb weakness.Subtotal tumor resection was achieved in 4 cases,partial tumor resection in 5 cases and biopsy in 1 case.6 patients achieved symptom improvement while 4 patients had no significant change after operation.There was no central nervous system infection.One patient developed hydrocephalus during postoperative radiotherapy.Pathological examinations revealed 10 cases of DMG with H3 K27M mutations(World Health Organization grade Ⅳ).Immunohistochemical test results showed that Olig-2 positive proportion was 9/9,GFAP positive proportion was 10/10,IDH1 mutation positive proportion was 0/9,and the proportion of Ki

关 键 词：神经胶质瘤 儿童 分子分型 预后 

分 类 号：R739.41[医药卫生—肿瘤]