Detection of Mutation in the IDH2 Gene
Mutations in the IDH2 gene lead to changes in enzyme activity and the production of a pathological metabolite - 2-hydroxyglutarate. Its accumulation disrupts epigenetic regulation processes and may contribute to tumor transformation of cells.
IDH2 mutations are detected in various malignant neoplasms, including:
- gliomas;
- acute myeloid leukemia (AML);
- cholangiocarcinoma;
- chondrosarcoma.
The most clinically significant mutations in the IDH2 gene are located at codons R140 and R172.
Clinical Significance in Gliomas
Mutations in the IDH1/IDH2 genes play an important role in the development of diffuse gliomas and are significant molecular markers in the current classification of central nervous system tumors.
Determination of the IDH2 mutation status helps to:
- уточнить molecular type of the glioma;
- perform differential diagnosis of CNS tumors;
- assess disease prognosis;
- determine the need for additional molecular genetic testing.
In general, gliomas with IDH1/IDH2 mutations are associated with a more favorable prognosis compared with IDH-wild type tumors of similar morphology.
When an IDH mutation is detected, the 1p/19q codeletion status should be taken into account, as it is of fundamental importance for the diagnosis of oligodendroglioma.
Clinical Significance in Acute Myeloid Leukemia
IDH2 mutations occur in a subset of patients with AML and have diagnostic, prognostic, and therapeutic significance.
Detection of IDH2 mutations may be used for:
- molecular characterization of the disease;
- уточнение prognostic factors;
- selection of a personalized treatment strategy;
- determining the potential eligibility for targeted therapy with mutant IDH2 inhibitors.
Targeted medications are available for patients with certain types of AML harboring an IDH2 mutation, in particular the IDH2 inhibitor enasidenib. Its use is determined by the clinical situation and current guidelines.
Specimen for Testing
For acute myeloid leukemia (AML):
- venous blood - 2 mL in an EDTA tube.
The specimen must be stored and transported at a temperature not exceeding +4°C.
Do not freeze!
Blood for analysis may be collected directly at the СDL “OLYMP” laboratory.
For glioma:
- paraffin blocks with slides containing a tumor tissue specimen.
Testing Method
Next Generation Sequencing of DNA - Next Generation Sequencing (NGS).