Sequencing the next generation of glioblastomas.

摘要: The most aggressive brain malignancy, glioblastoma, accounts for 60-70% of all gliomas and is uniformly fatal. According to the molecular signature, glioblastoma divided into four subtypes (proneural, neural, classical, mesenchymal), each with its own genetic background. Cancer Genome Atlas project provides information about common changes in glioblastoma. They involve mutations TP53, TERT, PTEN, amplifications EFGR, PDGFRA, CDK4, CDK6, MDM2, MDM4. Recently, epigenetics was used demonstrate oncogenic roles miR-124, miR-137, miR-128. important findings so far are IDH1/2 MGMT promoter methylation, which routinely as predictive biomarkers patient care. Current clinical treatment leaves patients only a 10% chance 5-year survival. Attempts define mutational profile identify clinically relevant have not yet yielded significant results. This can be attributed inter- intra-tumor heterogeneity that present glioblastomas, well hypermutation appears consequence chemotherapy. evolving field radiogenomics aims classify using combination magnetic resonance imaging genomic information. In era medicine, next-generation sequencing extensively research because it detect multiple single biological sample; potential detecting circulating cell-free DNA has been tested cerebrospinal fluid plasma, shows promise examination cellular content extracellular vesicles source biomarkers. Next-generation making way diagnostics. Gene panels like GlioSeq, includes commonly mutated genes, currently being on snap frozen formalin fixed paraffin embedded tissues. new methodology helping "next generation glioblastomas" - defined better understood, greater improve However, limitations necessary infrastructure, space data storage, technical expertise, ownership need considered carefully.