Associated Genetic Biomarkers


Gene Location [1]
Chromatin remodeling/DNA methylation, Metabolic signaling

IDH2 Mutation is present in 0.96% of AACR GENIE cases, with acute myeloid leukemia, colon adenocarcinoma, lung adenocarcinoma, myelodysplastic syndromes, and oligodendroglioma having the greatest prevalence [4].

Top Disease Cases with IDH2 Mutation

Significance of IDH2 Mutation in Diseases

Acute Myeloid Leukemia +

Glioma +

Malignant Solid Tumor +

Malignant Glioma +

Cholangiocarcinoma +

Oligodendroglioma +

Myelodysplastic Syndromes +

Glioblastoma +

Astrocytoma +

Clear Cell Renal Cell Carcinoma +

Ependymoma +

Multiple Myeloma +

WHO Grade II Glioma +

WHO Grade III Glioma +

Angioimmunoblastic T-Cell Lymphoma +

Anaplastic Oligodendroglioma +

Leukemia +

Chronic Myelomonocytic Leukemia +

Diffuse Glioma +

Myelofibrosis +

Lymphoma +

Anaplastic Astrocytoma +

Non-Small Cell Lung Carcinoma +

Renal Cell Carcinoma +

Breast Carcinoma +

Acute Bilineal Leukemia +

Acute Biphenotypic Leukemia +

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 +

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 +

High-Grade Glioma, NOS +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Meningioma +

Mesothelioma +

Myeloproliferative Neoplasm +

Oligoastrocytoma +

Papillary Renal Cell Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Pleural Mesothelioma +

Primary Brain Neoplasm +

Primary Central Nervous System Lymphoma +

Schwannoma +

Uveal Melanoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

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