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Updated: Jul 23, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
IDH2 mutations in acute myeloid leukemia
Rodrick Babakhanlou1, Courtney DiNardo1, Gautam Borthakur1
1Department of Leukemia, The University of Texas, MD Anderson Cancer Center, Houston, TX, United States.
Abstract:
Advances in the treatment of acute myeloid leukemia (AML) over the last 40 years have been limited. With an improved understanding of the pathophysiology of the disease, the advent of new treatment options has enriched the armamentarium of the physician to combat the disease. Mutations of the isocitrate dehydrogenase (IDHs) genes are common in AML and occur in 20-30% of cases. These mutations lead to DNA hypermethylation, aberrant gene expression, cell proliferation, and abnormal differentiation. Targeting mutant IDH, either as monotherapy or in combination with hypomethylating agents (HMAs) or BCL-2 inhibitors, has opened new avenues of therapy for these patients.This review will outline the function of IDHs and focus on the biological effects of IDH2 mutations in AML, their prognosis and treatment options.
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