Isocitrate dehydrogenase [NADP], mitochondrial is an enzyme that in humans is encoded by the IDH2 gene. [5]Isocitrate dehydrogenases are enzymes that catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate.These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported ...

2024年12月25日 · IDH2 mutations have been observed in a number of cancer types, including sarcomas, hematologic malignancies, colon cancer and brain cancer. Mutations in the two isocitrate dehydrogenase enzymes involved in cytoplasmic (IDH1) and mitochondrial (IDH2) conversion of alpha-ketoglutarate to D-2-hydroxyglutarate have been described as mutually exclusive in many of these cancer types.

2022年8月31日 · The isocitrate dehydrogenase-2 (IDH2) mutation is associated with some types of cancer such as acute myeloid leukemia (AML), myelofibrosis, and brain cancer (glioma), as well as some genetic conditions. Drugs that target the effects of the IDH2 mutation have been developed to treat some of these conditions.

IDH2 gene mutations have been found in some enchondroma cells, and like other IDH2 gene mutations discussed previously, they appear to be gain-of-function mutations that result in the production of D-2-hydroxyglutarate, but the relationship between the abnormal buildup of this substance and the signs and symptoms of the disorder is not well ...

“Idhifa is a targeted therapy that fills an unmet need for patients with relapsed or refractory AML who have an IDH2 mutation,” said Richard Pazdur, M.D., director of the FDA’s Oncology ...

2021年6月15日 · Mutations in the genes encoding the cytoplasmic and mitochondrial forms of isocitrate dehydrogenase (IDH1 and IDH2, respectively; collectively referred to as IDH) are frequently detected in ...

IDH2 stabilizes HIF-1alpha-induced metabolic reprogramming and promotes chemoresistance in urothelial cancer. Impact of IDH1 and IDH2 mutation detection at diagnosis and in remission in patients with AML receiving allogeneic transplantation. IDH2[R172] mutation in angioimmunoblastic T-cell lymphoma: A retrospective multicenter case series.

The IDH2 and IDH3 enzymes are located in mitochondria, and they are NADP+-dependent and NAD+-dependent enzymes, respectively. IDH1 is a NADP+-dependent enzyme and is distributed in the cytosol. Mutations in both the IDH1 and IDH2 enzyme genes are responsible for the conversion of α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG).

2025年3月17日 · IDH2 mutations in AML rarely occur in isolation, and their prognostic significance is shaped by additional genetic alterations. Co-existing mutations influence disease trajectory, treatment response, and survival. NPM1 mutations frequently co-occur with IDH2 alterations. Patients with both mutations, in the absence of FLT3-ITD, often have a ...

Recurrent IDH2 Mutations in Salivary Gland Striated Duct Adenoma Define an Expanded Histologic Spectrum Distinct From Canalicular Adenoma. Rooper LM, Agaimy A, Assaad A, Bal M, Eugene H, Gagan J, Nonogaki H, Palsgrove DN, Shah A, Stelow E, Stoehr R, Thompson LDR, Weinreb I, Bishop JARooper LM, et al.Am J Surg Pathol, 2023 Mar 1.