isocitrate dehydrogenase mutation
Genetic alteration in IDH1 or IDH2 genes that serves as a key biomarker and therapeutic target in brain tumors.
Full Definition
Isocitrate dehydrogenase (IDH) mutations, occurring primarily in the IDH1 and IDH2 genes, represent one of the most important molecular discoveries in neuro-oncology. These mutations are found in the majority of lower-grade gliomas and secondary glioblastomas, and they fundamentally alter cellular metabolism by producing the oncometabolite 2-hydroxyglutarate. IDH-mutant tumors have distinct clinical characteristics, including better prognosis and different treatment responses compared to IDH-wildtype tumors. The mutation status has become essential for tumor classification under current WHO guidelines and influences treatment decisions. Additionally, IDH mutations create new therapeutic opportunities, with targeted inhibitors now in clinical development.
Usage
Usage note: Can be abbreviated as IDH mutation in clinical contexts.
In Context
- "The tumor demonstrated an isocitrate dehydrogenase mutation with favorable prognostic implications." — Molecular pathology report
- "IDH mutation status guided the selection of adjuvant therapy." — Treatment planning meeting