What does IDH1 mutation mean?

What does IDH1 mutation mean?

A gene that makes a protein that helps break down fats for energy and protect cells from harmful molecules. Mutations (changes) in the IDH1 gene have been found in several genetic conditions and in some types of cancer, including acute myelogenous leukemia, myelodysplastic syndromes, and brain cancer.

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.

What is IDH1 negative?

Tumors with normal IDH genes referred to as “IDH wild-type” or “IDH negative” tend to behave far more aggressively. Prognosis of IDH wild-type low-grade gliomas is similar to that of primary GBM 1.

How common is IDH1 mutation?

One review indicated that IDH mutations are among the most common mutations found in AML patients, with IDH1 mutations occurring in 7-14% and IDH2 mutations in 8-19% [30].

Is IDH1 a tumor suppressor?

IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.

What is IDH1?

The IDH1 gene provides instructions for making an enzyme called isocitrate dehydrogenase 1. This enzyme is primarily found in the fluid-filled space inside cells (the cytoplasm). It is also found in cellular structures called peroxisomes, which are small sacs within cells that process many types of molecules.

Can a negative IDH1-R132H mutation cause GBM?

In conclusion, negative IDH1-R132H mutation status in nonenhancing DG of older adults is a poor prognostic factor associated with rapid progression to ring-enhancing GBM. The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecular pathway as seen in primary GBM.

What is the prognostic significance of the IDH1 mutation?

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.

Is the IDH1 mutation associated with glioblastoma?

IDH1 mutations are frequent in glioblastomas arising from diffuse astrocytomas and tend to present in the frontal lobe of patients in their fifth decade of life. SDH mutations are found in pheochromocytomas but are not associated with glioblastoma. LDH mutations are not associated with glioblastoma.

Are there any IDH1 inhibitors for solid tumors?

Strong interest in targeting IDH mutations has led to a variety of studies in both hematologic malignancies and solid tumors and to the approval of IDH inhibitors such as ivosidenib, an IDH1 inhibitor, in hematologic malignancies.