Evaluation of Three Pathogenic Mutations in ALK Gene in Neuroblastoma in Iranian Children

Neuroblastoma is one of the most common solid tumors in children which is originated from precursor sympathetic nerves. ALK gene has been studied in cellular differentiation and cell migration in neuroblastoma. Recently, three new mutations in the ALK gene have been investigated, which can be used as a target for diagnosis. These mutations are recorded with international identifiers rs113994087, rs113994089, and rs281864720. The aim of this study was to investigate these mutations in Iranian patients with neuroblastoma using ARMS PCR technique in order to evaluate these mutations as a diagnostic and prognostic marker. The study was designed as a case-control study. In the case group, 45 children with neuroblastoma, whose pathology confirmed the disease, were placed. In the control group, 27 age-matched children with neuroblastoma were placed. 3 ml of blood sample with EDTA anticoagulant was collected and then DNA extracted from the blood samples evaluated by ARMS PCR method followed by gel electrophoresis.

In this study, the frequency of three pathogenic mutations rs113994087, rs113994089 and rs281864720 in children with neuroblastoma was studied in Iranian population. The average age of the children under study was 6.6 years and gender was almost equal in frequency. The frequency of homozygous mutants for the rs113994087, rs113994089, and rs281864720 mutations were 22.3, 24.6 and 22.3%, respectively, while the frequency of these mutations in the control group was significantly lower. These mutations were studied for the first time in the Iranian population and showed a significant rate of abundance.