83例神经母细胞瘤患儿N-myc和ALK基因检测及临床病理分析  

Detection of N-myc and ALK abnormality in and clinicopathological analyses of 83 cases of neuroblastoma

作　　者：王威亚[1] 李金男[1] 吴玮璐[1] 陈敏[1] 李甘地[1] 马志贵[2] 

机构地区：[1]四川大学华西医院病理科,四川成都610041 [2]四川大学华西第二医院儿科血液肿瘤实验室,四川成都610041

出　　处：《临床儿科杂志》2015年第8期720-725,共6页Journal of Clinical Pediatrics

摘　　要：目的探讨N-myc和间变性淋巴瘤激酶(ALK)基因拷贝数变化及ALK基因点突变等异常在神经母细胞瘤(NB)中的意义。方法回顾性分析83例NB患儿的临床病理特点,检测ALK和N-myc基因,根据NB患儿临床分期、组织学分类进行临床病理特征讨论和生存分析。结果共纳入83例NB患儿,以婴幼儿发病为主。NB中检测到N-myc基因增多和扩增,ALK基因异常表现为点突变和增多。17例NB患儿同时存在ALK和N-myc基因异常。年龄、临床分期和N-myc基因异常是影响NB预后的因子。结论对NB患儿进行N-myc和ALK基因检测,不仅能判断NB患儿的预后,还能为NB的ALK靶向治疗提供理论基础。Objectives To retrospectively analyze the clinicopathological features ofneuroblastoma （NB） and investigate the significance of abnormality of N-myc and anaplastic lymphoma kinase （ALK） gene copy number change as well as ALK mutations in NB. Methods Eighty-three NB patients were collected and classified into different subgroups according to the clinical stage and histology. Fluorescence in situ hybridization （FISH） was performed to detect the abnormalities of N-myc and ALK genes. The extracted DNA was amplified by PCR and sequenced to investigate the point mutations of the ALK gene. Follow-up data were collected and survival analysis was performed. Results FISH detection showed that the aberration of N-myc gene copy number presented as gain and amplification. The aberration ofALK gene presented as point mutation and gain. It was shown that 17 cases had the abnormality of both N-myc and ALK gene. Survival analysis showed that the prognostic factors included the clinical stage, age and abnormality of N-myc genes. Conclusion Detection of N-myc and ALK abnormality in NB would be helpful for evaluating the prognosis and providing theoretical basis for ALK target therapy.

关 键 词：神经母细胞瘤 N-myc基因 ALK基因 临床病理分析 

分 类 号：R739.4[医药卫生—肿瘤]