IDH1/2 Mutation Detection Kit
| Product Name/Description |
No. of Reactions*
|
Product Code |
|---|---|---|
| IDH1/2 Mutation Detection Kit |
38
|
IDH-RT38 |
*Includes all controls.
IDH1/2 Mutations and Cancer
Isocitrate dehydrogenase 1 and 2 (IDH1/2) are key enzymes in cellular metabolism, epigenetic regulation, redox states, and DNA repair. Mutations in IDH1/2 can lead to the development and/or progression of various types of cancer including secondary glioblastomas and acute myeloid leukemias (AML). IDH1/2 mutations are linked to abnormal histone and DNA methylation which may cause altered stem cell differentiation and eventual tumorigenesis. The unique features of IDH1/2 mutations make them good biomarkers and promising drug targets.
Glioblastoma
IDH 1/2 mutations have been identified mostly in secondary GBM and recently shown to carry strong favorable prognostic significance. Furthermore, evidence shows that IDH mutations are tightly associated with MGMT promoter methylation. MGMT promoter methylation leads to increased sensitivity to alkylating agents, such as temozolomide, and has prognostic significance similar to IDH mutations. IDH1/2 mutations are prognostic in GBM and are associated with a better outcome than IDH1/2-negative GBM.
Acute Myeloid Leukemia (AML)
IDH1/2 mutations are found in approximately 20% of AML patients. Mutations in the IDH1/2 genes are known to disrupt several cell processes which ultimately prevents bone marrow cells from maturing properly. IDH inhibitors are designed to help leukemia cells mature into normal blood cells. Some of these drugs, such as enasidenib (Idhifa) and ivosidenib (Tibsovo), are now approved to treat AML with certain IDH gene mutations.
Kit Features
The IDH 1/2 assay is polymerase chain reaction (PCR)-based that detects somatic mutations in DNA isolated from blood or tissue in three multiplexed reactions. It works by amplifying mutant-specific sequences in DNA samples. Each kit is supplied with primer/probe sets for multiplexed detection of both target and internal control genes.
Detected Mutations
The IDH1/2 Mutation Detection Kit is intended for the detection of IDH1 and IDH2 somatic mutations in genomic DNA isolated from human tissue.
List of IDH mutations detected by this kit:
| Gene | Exon | aa change | nt change | Cosmic ID | Detected by Primer No. |
| IDH1 | 4 | R132H | c.395G>A | COSM28746 | 1 |
| R132C | c.394C>T | COSM28747 | |||
| R132S | c.394C>A | COSM28748 | |||
| R132G | c.394C>G | COSM28749 | |||
| R132L | c.395G>T | COSM28750 | |||
| R132P | c.395G>C | COSM221574 | |||
| R132V | c.394_395CG>GT | COSM28751 | |||
| R100Q | c.299G>A | COSM88208 | 2 |
| Gene | Exon | aa change | nt change | Cosmic ID | Detected by Primer No. |
| IDH2 | 4 | R172K | c.515G>A | COSM33733 | 3 |
| R172M | c.515G>T | COSM33732 | |||
| R172W | c.514A>T | COSM34039 | |||
| R172G | c.514A>G | COSM33731 | |||
| R172S | c.516G>T | COSM34090 | |||
| R140Q | c.419G>A | COSM41590 | 4 | ||
| R140W | c.418C>T | COSM41877 | |||
| R140L | c.419G>T | COSM41875 | 5 | ||
| R140G | c.418C>G | COSM1737874 |
Testing Procedure and Analysis
The testing procedure involves the following simple steps:
- Isolation of DNA from tumor biopsies, paraffin-embedded sections (FFPE), fresh frozen tumors or blood.
- Set up PCR reaction using reagents provided in the kit.
- Run assay on real-time PCR instrument.
- Data analysis and interpretation using real-time PCR software.
Equipment & Materials
EntroGen’s IDH1/2 assay requires a real-time PCR instrument capable of detecting FAM and VIC fluorescent probes.
The test includes reagents required for PCR amplification/detection, as well as validated reaction controls. Columns and reagents for DNA isolation are not included.
Intended Use
USA: EntroGen’s IDH1/2 assay is provided for research use only (RUO). Not for use in diagnostic procedures.
Europe: EntroGen’s IDH1/2 assay is available for research (RUO) and diagnostic (CE-IVD) purposes.
Bibliography of studies using this product
Prognostic and Predictive Biomarkers in Gliomas. Śledzińska P, Bebyn MG, Furtak J, Kowalewski J, Lewandowska MA. Special Issue: Biomolecular Characterization of Brain Gliomas and Molecular Alterations Caused by Therapy. International Journal of Molecular Sciences. 2021, 22(19), 10373; DOI.org ID.