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.