儿童髓母细胞瘤合并Gorlin-Goltz综合征八例  

8 cases of Gorlin-Goltz syndrome associated with medulloblastoma in children

作　　者：张新颜[1] 李建康 李伟 Raynald Liu 杨宝[3] 李苗 李亚农[3] 张冰克[5] 孙黎明 邱晓光[3] 姜涛[3] 李春徳 Zhang Xinyan;Li Wei;Li Jiankang;Jiang Tao;Raynald Liu;Yang Bao;Li Miao;Li Yanong;Zhang Bingke;Sun Liming;Qiu Xiaoguang;Li Chunde(Department of Emergency,Beijing Haidian Hospital,Haidian Section of Peking University Third Hospital,Beijing;BGI-Shenzhen,Shenzhen 518083,China;Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical Univeristy,Beijing 100070,China;Department of Pediatrics,Beijing Shijitan Hospital,Capital Medical University,Beijing 100038,China;Department of Neurosurgery,Capital Institute of Pediatrics,Beijing 100038,China)

机构地区：[1]北京市海淀医院北京大学第三医院海淀院区,北京市100080 [2]深圳华大生命科学研究院,广东省深圳市518083 [3]首都医科大学附属北京天坛医院神经外科,北京市100070 [4]首都医科大学附属北京世纪坛医院儿科,北京市100070 [5]首都儿科研究所附属儿童医院神经外科,北京市100045

出　　处：《临床小儿外科杂志》2021年第5期409-414,共6页Journal of Clinical Pediatric Surgery

基　　金：首都卫生发展科研专项课题(编号:CFH2018-2-2042,2018-2-1073)。

摘　　要：目的初步探讨儿童髓母细胞瘤合并Gorlin-Goltz综合征的诊治经验。方法2014年1月至2021年1月,首都医科大学附属北京天坛医院神经外科共收治8例髓母细胞瘤合并Gorlin-Goltz综合征患者,其中男4例,女4例。除1例9岁患者外,其余7例年龄均在3岁以下(9~36个月,平均19个月)。肿瘤均位于第四脑室,T1加权MRI为中低信号,有明显强化;T2加权MRI中高信号,均伴有明显梗阻性脑积水。7例为促纤维增生/结节型,1例为广泛结节形成型髓母细胞瘤。结果8例平均随访38个月(1~78个月),1例围手术期死亡,其余7例存活。手术后单纯放疗2例,单纯化疗4例,放疗+化疗1例。2例肿瘤复发,目前化疗中。1例术后全脑脊髓放疗后5年诊断为头皮基底细胞癌,予手术切除。6例行分子分型检测,均为SHH亚型。7例接受基因检测,发现SUFU基因胚系突变4例,PTCH1基因胚系突变2例,PTCH2基因胚系突变1例。病例1、病例2和病例3属于同一家族,为SUFU基因胚系突变,表现为常染色体显性遗传模式,其他家族成员可见明显大脑镰和小脑幕钙化。结论髓母细胞瘤合并Gorlin-Goltz综合征好发于婴幼儿,病理类型为促纤维增生/结节型或广泛结节形成型髓母细胞瘤,分子亚型为SHH亚型,化疗是目前主要治疗方案,放疗可能会诱发基底细胞癌形成。Objective Aims To introduce diagnosis and treatment of pediatric medulloblastoma related Gorlin-Goltz syndrome.Methods From 2014.01 to 2021.01,8 medulloblastoma patients were diagnosed with Gorlin-Goltz syndrome at clinics of Beijing Tiantan Hospital,Capital Medical University.4 patients were male,4 females.Except one patient aged 9 years old,all seven patients were under three years old(9-36 months old,average 19 months).Tumors all located at fourth ventricle with low to medium signal at T1 weighted MRI with obvious contrast,medium to high signal at T2 weighted MRI.Patients all have obstructive hydrocephalus.Seven tumors were desmoplastic/nodular medulloblastoma,one was medulloblastoma with extensive nodularity.Results At median follow-up time of 38 months(1-78 months),one case died at peri-operational period,other seven cases are all alive now.After tumor removal,two patients accepted craniospinal axis irradiation,four patients accepted chemotherapy,one patient accepted both irradiation and chemotherapy.Two tumors relapsed and are under chemotherapy now.One patient had scalp basal cell carcinoma five years later who also accepted postsurgical irradiation.Six tumors belonged to SHH subtype.Four patients were diagnosed as germline SUFU gene mutation,two patients with PTCH1 mutation,one with PTCH2 mutation.Case No.1-3 belongs to one family with germline SUFU mutation.Cerebral falx calcification at CT scan were found in other family members which could help to make the diagnosis of Gorlin-Goltz syndrome and revealed autosomal dominant inheritance model.Conclusion Most medulloblastoma patients with Gorlin-Goltz syndrome are infants,with desmoplastic/nodular pathological subtype and SHH subtype.Chemotherapy should be first line treatment;irradiation may cause secondary neoplasm such as basal cell carcinoma.

关 键 词：髓母细胞瘤/并发症 Gorlin-Goltz综合征 遗传变异 儿童 

分 类 号：R739.4[医药卫生—肿瘤] R392.2[医药卫生—临床医学]