Overview

Location [1]
2q34
Pathways
Metabolic signaling, Chromatin remodeling/DNA methylation
Protein [2]
Isocitrate dehydrogenase [NADP] cytoplasmic
Synonyms [1]
HEL-S-26, IDPC, IDP, IDCD, PICD, IDH, HEL-216

IDH1 (isocitrate dehydrogenase 1 (NADP+), soluble) encodes for the isocitrate dehydrogenase [NADP] cytoplasmic protein, an epigenetic modifier. IDH1 is frequently mutated in glioma and acute myeloid leukemia, among other cancer types (PMID: 23558169).

 

IDH1 is altered in 2.70% of all cancers with oligodendroglioma, anaplastic astrocytoma, astrocytoma, acute myeloid leukemia, and conventional glioblastoma multiforme having the greatest prevalence of alterations [3].

IDH1 GENIE Cases - Top Diseases

The most common alterations in IDH1 are IDH1 Mutation (3.98%), IDH1 Codon 132 Missense (3.18%), IDH1 R132H (1.97%), IDH1 R132C (0.82%), and IDH1 R132L (0.14%) [3].

IDH1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of IDH1 in Diseases

Acute Myeloid Leukemia +

Cholangiocarcinoma +

Glioma +

Malignant Solid Tumor +

Malignant Glioma +

Myelodysplastic Syndromes +

Oligodendroglioma +

Astrocytoma +

Anaplastic Astrocytoma +

Chondrosarcoma +

Glioblastoma +

WHO Grade II Glioma +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Ependymoma +

Lymphoma +

WHO Grade III Glioma +

Oligoastrocytoma +

Anaplastic Oligodendroglioma +

Diffuse Astrocytoma +

Diffuse Glioma +

Intrahepatic Cholangiocarcinoma +

Bile Duct Carcinoma +

Malignant Hepatobiliary Neoplasm +

Leukemia +

Cancer +

Melanoma +

Sarcoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Embryonal Neoplasm +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Chronic Myeloid Leukemia +

Chronic Myelomonocytic Leukemia +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Hematopoietic And Lymphoid Malignancy +

Hepatocellular Carcinoma +

High-Grade Glioma, NOS +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Mesothelioma +

Multiple Myeloma +

Myelofibrosis +

Myeloproliferative Neoplasm +

Ovarian Carcinoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Pleural Mesothelioma +

Primary Brain Neoplasm +

Primary Central Nervous System Lymphoma +

Refractory Anemia With Excess Blasts-2 +

Renal Cell Carcinoma +

Schwannoma +

Uveal Melanoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.