Mapping actionable pathways and mutations in brain tumours using targeted RNA next generation sequencing

摘要: Many biology-based precision drugs are available that neutralize aberrant molecular pathways in cancer. Molecular heterogeneity and the lack of reliable companion diagnostic biomarkers for many makes targeted treatment cancer inaccurate individuals. Identifying actionable hyperactive biological individual cancers may improve this situation.To achieve we applied a novel RNA next generation sequencing (t/RNA-NGS) technique to surgically obtained glioma tissues. The test combines mutation detection with analysis pathway activities involved tumour behavior types (e.g. tyrosine kinase signaling, angiogenesis immune response, metabolism), via quantitative measurement transcript levels splice variants hundreds genes. We here present proof concept technique, which uses inversion probes, generates histology-independent diagnosis identifies classifiers strongly associated conventional histopathology diagnoses even patient prognosis. not only confirmed known glioma-associated aberrations but also identified expression genes mutations have so far been considered be glioma, opening up possibility drug repurposing patients. Its cost-effectiveness t/RNA-NGS an attractive instrument aid oncologists therapy decision making.