作者: Kristin Wipfler , Adam S. Cornish , Chittibabu Guda
DOI: 10.18632/ONCOTARGET.25420
关键词: Exceptional Response 、 Internal medicine 、 Disease 、 Medicine 、 Bioinformatics 、 Survival analysis 、 Oncology 、 Brain tumor 、 Downregulation and upregulation 、 Gene 、 Phenotype 、 CDKN2A
摘要: Glioblastoma (GBM) is the most common and deadliest type of primary brain tumor, with a median survival time only 15 months despite aggressive treatment. Although patients have an extremely poor prognosis, relatively small number survive far beyond time. Investigation these exceptional responders has sparked great deal interest becoming important focus in field cancer research. To investigate molecular differences between typical GBM, comparative analyses somatic mutations, copy number, methylation, gene expression datasets from The Cancer Genome Atlas were performed, results integrated via ontology pathway to assess functional significance differential aberrations. Less severe loss CDKN2A, lower CXCL8, FLG mutations are all associated response. Typical characterized by upregulation NF-κB signaling pro-inflammatory cytokines, while Alzheimer's Parkinson's disease pathways as well genes involved synaptic transmission. upregulated processes consistently more tumor phenotypes, those suggest retained ability cells undergo cell death response With upcoming launch National Institute's Exceptional Responders Initiative, similar studies much larger sample sizes will likely become possible, hopefully providing even insight into responders.