Genotyping using Digital PCR with the LightCycler® 1536 Real-Time PCR System to Detect the IDH1 Mutation in Plasma Samples

Mutations in the gene encoding isocitrate dehydrogenase 1 (IDH1) have recently been identified in gliomas. IDH1 mutations have rapidly been recognized as a powerful independent prognostic factor in subjects with glioma. Subjects with tumor cells with IDH1 mutations were shown to have a longer life expectancy than subjects with a wildtype IDH1 glioma. IDH1 mutations are primarily found in gliomas, making them an excellent biomarker for this pathology. This study describes a novel genotyping assay to detect the IDH1 mutation in free circulating tumor DNA. This IDH1 genotyping assay uses digital PCR and the LightCycler® 1536 Real Time PCR System, after a first run of COLD-PCR.