IDH mutation
Also written as: IDH — isocitrate dehydrogenase mutation
Genetic alteration in isocitrate dehydrogenase genes, particularly important in brain tumors and acute myeloid leukemia.
Full Definition
A mutation in the isocitrate dehydrogenase genes (IDH1 or IDH2) that results in production of the oncometabolite 2-hydroxyglutarate instead of normal cellular metabolism. These mutations are defining characteristics of certain brain tumor subtypes, especially oligodendrogliomas and secondary glioblastomas, and are also found in some hematologic malignancies. IDH mutations have prognostic significance and therapeutic implications, as IDH-mutant tumors often have better outcomes and may respond to specific IDH inhibitors. The mutation status is now part of the WHO classification system for central nervous system tumors.
In Context
- "The IDH mutation was confirmed by immunohistochemistry and validated by sequencing." — Pathology report
- "Patients with IDH mutation showed improved progression-free survival compared to wild-type cases." — Clinical trial publication