Detection of mutations at IDH1 codons R132X and R100Q and at IDH2 codons R140X and R172X is performed using real-time PCR. IDH1 and IDH2 are analyzed concurrently. For solid tumors, tumor enrichment is performed before extraction.
Mutations in the enzyme isocitrate dehydrogenase 1 (IDH1) and IDH2 genes have been identified in a variety of tumors including central nervous system gliomas, cholangiocarcinoma, acute myeloid leukemia, blast-phase myeloproliferative neoplasms (MPNs) and chronic-phase primary myelofibrosis (PMF). Per professional practice guidelines, testing for IDH mutations has diagnostic and prognostic implications in the workup of gliomas and guides therapy selection in AML. AML patients with IDH mutations may respond to venetoclax-based therapy or IDH inhibitors.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Note: Test is DNA-based. Please select Extract & Hold - DNA if specimen hold service is desired.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.
5 days
- Han S, Liu Y, Cai SJ, et al. IDH mutation in glioma: molecular mechanisms and potential therapeutic targets. Br J Cancer. 2020;122(11):1580-1589. PMID: 32291392.
- DiNardo CD, Stein AS, Stein EM, et al. Mutant isocitrate dehydrogenase 1 inhibitor ivosidenib in combination with azacitidine for newly diagnosed acute myeloid leukemia. J Clin Oncol. 2021;39(1):57-65. PMID: 33119479.
- Stein EM, DiNardo CD, Fathi AT, et al. Molecular remission and response patterns in patients with mutant-IDH2 acute myeloid leukemia treated with enasidenib. Blood. 2019 Feb 14;133(7):676-687. PMID: 30510081.