According to the 2016 World Health Organization Classification of Tumors of the Central Nervous System (2016 CNS WHO), IDH-mutant astrocytic gliomas comprised WHO grade II diffuse astrocytoma, IDH-mutant (AII<sub>IDHmut</sub>), WHO grade III anaplastic astrocytoma, IDH-mutant (AAIII<sub>IDHmut</sub>), and WHO grade IV glioblastoma, IDH-mutant (GBM<sub>IDHmut</sub>).
Mutations in genes associated with key metabolic pathways (e.g., isocitrate dehydrogenase 1 and 2, IDH1/IDH2) are important drivers of cancer, including central nervous system (CNS) tumors.
With the advent of molecular genetics, molecular diagnostic testing has been added to histological evaluation in the armamentarium of the pathologist, and the recent World Health Organization (WHO) Classification of Tumors of the Central Nervous System encourages testing for isocitrate dehydrogenase (IDH) gene status in the classification of diffuse astrocytic gliomas.
The "integrated diagnosis" for infiltrating gliomas in the 2016 revised World Health Organization (WHO) classification of tumors of the central nervous system requires assessment of the tumor for IDH mutations and 1p/19q codeletion.
The recent 2016 WHO classification for CNS tumors categorizes diffuse glioma into two major types that include IDH wild-type glioblastoma, which is the predominant type and IDH-mutant glioblastoma, which is less common and displays better prognosis.
There is growing interest in identification of diagnostic, prognostic or predictive blood biomarkers in CNS tumor patients, and emerging studies indicate that certain brain tumors are indeed associated with distinct profiles of circulating factors such as proteins (e.g., glial fibrillary acidic protein), DNA fragments (e.g., containing mutated IDH) or miRNAs (e.g., miRNA-21).