| الوصف: |
This study aimed to investigate the genetic aberrations in neuroblastoma (NB) by comparing high and low-riskNB patients by whole-exome sequencing (WES) and to reveal the heterogeneity and association between somaticvariants and clinical features. Seven NB patients with available clinical data were included in the study (4 in thelow-risk group and 3 in the high-risk group). WES was performed and somatic variants associated with NB genesin the COSMIC database were selected through bioinformatics pipeline analysis. Variants were determined usingthe Integrative Genomics Viewer (IGV). Some gene variations were found in both groups, including variations inoncogene and tumor suppressor genes. In general, candidate gene variations were associated with chromatinremodeling complexes, the RAS pathway, cell proliferation, and DNA repair mechanism. Some variations inCSF1R, MSH6, PTPN11, SOX9, RET, TSC1, and DNMT1 genes were detected only in high-risk patients, whileEP300, TET2, MYCN, PRDM1, and ARID2 gene variations were detected only in low-risk patients. When high-riskgene variants were compared with the cBioportal cancer genomic database, two common gene variants (ARID1Aand NCOR2) were identified. However, when low-risk gene variants were compared with the cBioportal cancergenomic database, no common genes were found. GO/KEGG enrichment analysis was performed to find relevantbiological processes and molecular pathways related to gene variants, which will help to decipher the molecularmechanisms of NB tumorigenesis and the phenotypic differences between high-risk and low-risk patients. |
