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Associated Genetic Biomarkers
IDH2 R172T is present in 0.01% of AACR GENIE cases, with chondrosarcoma, follicular dendritic cell sarcoma, head and neck carcinoma, lung adenocarcinoma, and sinonasal undifferentiated carcinoma having the greatest prevalence .
IDH2 R172T is a predictive biomarker for use of enasidenib in patients.
Of the therapies with IDH2 R172T as a predictive biomarker, 1 is FDA-approved and 1 has NCCN guidelines in at least one clinical setting.
Acute myeloid leukemia has the most therapies targeted against IDH2 R172T or its related pathways .
Acute Myeloid Leukemia -
Sample must match one or more of the following:
|Predicted Response: Primary Sensitivity|
|Clinical Setting(s): Refractory (FDA, NCCN), Relapse (FDA, NCCN)|
|Note: Enasidenib is an IDH2 inhibitor approved by the FDA for treatment of adult patients with relapsed or refractory AML with an IDH2 mutation.|
Significance of IDH2 R172T in Diseases
Acute Myeloid Leukemia +
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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 8. 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.