| Summary: | Neuroblastoma (NB) is the most common extracranial solid tumor in children with incidence rate 10.2 <i>per</i> 1 million children under 15 years old. NB has great diversity in clinical behavior while some tumors are easily curable and spontaneously regressed, the others are resistant to chemotherapies and exhibiting high relapse rates. Despite intensive usage of chemotherapies, still 5-year survival rate is about 40% for advanced stage bad prognostic patient group. Hence, there is need for more effective therapeutics and novel biomarkers for early detection of high-risk patients. In the present study we aimed to study molecular mutation profile of both good and bad prognostic NB patients with whole exome sequencing (WES). The NB patients whose risk group previously was confirmed according to TPOG-2009 protocol. 5 patients with good prognosis (low risk & intermediate with good histology) and 5 patients with bad prognosis (intermediate poor histology & high risk) were chosen. As a result, 23 common mutations were found in both prognostic group. While 7 mutations were found to be specific to bad prognostic group, 2 mutations were only observed in good prognostic group patients. The commonly mutated genes were located commonly in cell membrane and extracellular space and mostly interfering with cell signaling and cell communication pathways.
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