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 of neuroblastoma (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 of ALK 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.