What is an IDH1 mutation?
What is an IDH1 mutation?
The IDH1 gene mutations involved in CN-AML are somatic mutations, found only in cells that become cancerous. They change a single protein building block (amino acid) in the isocitrate dehydrogenase 1 enzyme, replacing the amino acid arginine at position 132 with another amino acid.
Is IDH1 mutation good?
A systematic review reported similar results. Based on the review of current literature IDH1 mutation is an independent factor for longer overall survival (OS) and progression free survival (PFS) in GBM patients when compared to wild-type IDH1. The prognostic significance opens up new avenues for treatment.
What is IDH mutant glioma?
IDH mutations are highly common in lower grade gliomas (LGG) and secondary glioblastomas, and they are among the earliest genetic events driving tumorigenesis. Therefore, inhibition of mutant IDH enzymes in LGGs is widely accepted as an attractive therapeutic strategy.
What does IDH1 negative mean?
IDH-wild-type = IDH negative = no mutation = poor prognosis. IDH-mutant = IDH positive = mutation present = better prognosis.
What does IDH positive mean?
In other words: IDH-wild-type = IDH negative = no mutation = poor prognosis. IDH-mutant = IDH positive = mutation present = better prognosis.
Why is IDH important?
Isocitrate dehydrogenase (IDH) enzymes, of which there are three isoforms, are essential enzymes that participate in several major metabolic processes, such as the Krebs cycle, glutamine metabolism, lipogenesis and redox regulation.
What causes IDH?
Smoking, consuming alcohol, obesity, and high blood fat may lead to IDH. Additionally, certain groups of people have an increased risk of IDH, including younger males and people with diabetes or previous cardiovascular events.
What does IDH1 wild-type mean?
As a reversible dehydrogenase, wild-type IDH1 is a homodimeric enzyme that reversibly catalyzes isocitrate into α-KG accompanied with the generation of NADPH from NADP+ in cytosol, which has been proven to be physiologically crucial in the metabolism of lipids, amino acids, and sugars in cells.
How do you test for IDH mutations?
HOW THE TEST WORKS: For tissue specimens, a histologic section of formalin-fixed, paraffin-embedded tissue is examined by a pathologist to identify an area of tissue with sufficient tumor for detection (>=50% tumor if possible). DNA is extracted from tumor areas on adjacent unstained slides.
How common is IDH1 mutation?
The frequency of IDH1 mutations was 16.7% (2/12) in the RAEB-1 patient cohort, while the frequency of IDH2 mutations was 0. Additionally, among the RAEB-2 patients, 2.9% (1/34) of the patients exhibited an IDH1 mutation, and 11.8% of patients exhibited IDH2 mutations (4/34).
