Li-Fraumeni综合征合并儿童颅脑肿瘤TP53基因胚系突变及临床特征分析  

Analysis of germline TP53 mutation and clinical features in Li-Fraumeni syndrome with pediatric central nervous system tumors

作　　者：王颖[1] 张莎娜 李建康 郭思成 田沛艺 刘海龙 杨宝[6] 李亚农[6] 刘振强 李春徳 姜涛[6,7] WANG Ying;ZHANG Sha'na;LI Jiankang;GUO Sicheng;TIAN Peiyi;LIU Hailong;YANG Bao;LI Yanong;LIU Raynald;LI Chunde;JIANG Tao(Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070)

机构地区：[1]首都医科大学附属北京朝阳医院,北京100020 [2]首都医科大学电力教学医院 [3]深圳华大生命科学研究院 [4]湖南农业大学 [5]中国科学院大学 [6]首都医科大学附属北京天坛医院 [7]北京市神经外科研究所

出　　处：《中国神经精神疾病杂志》2022年第5期257-261,共5页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金(编号:82172608);首都卫生发展科研专项(编号:CFH 2018-2-2042)。

摘　　要：目的探讨儿童Li-Fraumeni综合征(Li-Fraumeni syndrome,LFS)合并颅脑肿瘤的临床特征及预后。方法回顾性分析2016年1月至2021年1月于首都医科大学附属北京天坛医院门诊确诊为LFS患儿的临床信息,分析TP53基因突变位点、患者临床表型及预后。结果共纳入8例脉络丛乳头状癌(choroid plexus carcinoma,CPC)和4例髓母细胞瘤(medulloblastoma,MB)患儿,均伴有TP53基因胚系突变。12例患儿随访时间3~48个月,1例患儿伴有膝关节骨肉瘤,3例患儿亲属可见LFS相关肿瘤,1例患儿母亲TP53胚系突变阳性。截止随访时,8例脉络丛癌患儿年龄14~102个月,5例复发,3例死亡。髓母细胞瘤患儿4例,年龄5~9岁,均属于SHH亚型,手术后接受全脑脊髓放疗+化疗,均因肿瘤复发死亡。结论SHH亚型髓母细胞瘤及脉络丛癌可能会合并LFS综合征,需要行基因检测排除TP53胚系突变,并给予患儿个体化的诊疗方案。Objective To investigate the clinical characteristics of children with brain tumors complicated with Li-Fraumeni syndrome(LFS)and analyze its association with TP53 gene mutation.Methods Retrospective analysis was conducted on clinical data of pediatric patients diagnosed with LFS at the outpatient clinic of Beijing Tiantan Hospital from January 2016 to January 2021.TP53 gene mutation sites,clinical phenotypes and prognosis were analyzed.Results TP53 gene mutations were found in 4 cases of medulloblastoma(MB)and 8 cases of choroid plexus papilloma(CPC),with follow-up time ranged between 3-48 months.One child had knee joint sarcoma,three patients'relatives had LFS related core tumors,one relative was found with germline TP53 mutation.Eight choroid plexus papilloma patients aged between 14-102 months,five had recurrence,and three dead at the time of follow-up.All four medulloblastoma belongs to SHH subgroup,ages between 5-9 years old.Four medulloblastoma patients received cerebrospinal radiotherapy and chemotherapy,all died because of tumor recurrence.Conclusion Gene test are recommended for children and their families with SHH subtype medulloblastoma and choroid plexus cancer to rule out germline TP53 mutation and to provide an individualized treatment plan for patients with LFS.

关 键 词：儿童脑肿瘤 Li-Fraumeni综合征 髓母细胞瘤 脉络丛乳头状癌 TP53胚系突变 

分 类 号：R651[医药卫生—外科学]