Purpose of review: This review summarizes recent studies on diagnostic and prognostic markers in gliomas such as the BRAF fusion gene in pilocytic astrocytomas and 1p/19q codeletion, O-6-methylguanine-DNA methyltransferase status and isocitrate dehydrogenase 1 (IDH1)/IDH2 mutations in diffuse gliomas.
Recent findings: In pilocytic astrocytomas, the BRAF fusion gene has been recently identified as a specific and frequent event leading to potentially targetable mitogen-activated protein kinase pathway activation. In grade II/III gliomas and in glioblastomas, chromosome 1p/19q codeletion and O-6-methylguanine-DNA methyltransferase status remain the most important prognostic and predictive markers. Recently identified mutations in IDH1/IDH2, however, are specific for diffuse gliomas, occur frequently in grade II/III gliomas and are of prognostic value in grade III gliomas, as well in glioblastomas in which they characterize secondary glioblastomas.
Summary: Extensive molecular studies have enabled the discovery of new diagnostic and prognostic markers that are refining the histomolecular classification of gliomas.