A novel all-in-one intraoperative genotyping system for IDH1 -mutant glioma

In this study, we established a rapid genotyping assay with a simple DNA extraction method, involving only incubation of the tumor specimen with Tris –EDTA buffer, which can be easily performed in an operating room. In all 11 tested cases, we could identify theIDH1 status within 90 –100 min intraoperatively. In a case of anaplastic astrocytoma, IDH-mutant, we could detect the tumor border byIDH1 profiling. In addition, with this assay, we could detectIDH1 mutation using cell-free tumor DNA derived from cerebrospinal fluid in a case of glioblastoma, IDH-mutant. Considering that clinical trials of mutated IDH1 inhibitors are ongoing, less-invasive intraoperativeIDH1 gene profiling might be useful for decision making of the overall treatment strategy of LGGs. Our assay might be a useful tool for precision medicine and surgery ofIDH1-mutant gliomas.
Source: Brain Tumor Pathology - Category: Neurology Source Type: research