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Am J Blood Res. 2012;2(4):254-64. Epub 2012 Nov 25.

Prognostic significance of IDH1 mutations in acute myeloid leukemia: a meta-analysis.

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Division of Hematology-Oncology, and Key Laboratory of Reproductive Genetics (Zhejiang University, Ministry of Education), Children's Hospital, Zhejiang University School of Medicine Hangzhou 310003, PR China.


Isocitrate dehydrogenase 1 (IDH1) gene aberrations have recently been reported in acute myeloid leukemia (AML). To evaluate the prognostic significance of IDH1 mutations in AML, we performed a meta-analysis. Fifteen studies covering a total of 8121 subjects were included in this analysis. The frequency of IDH1 R132 mutations were 4.4-9.3% for AML patients and 10.9-16.0% for cytogenetically normal (CN)-AML patients. The IDH1 mutations were associated with NPM1 mutations in 6 studies and normal cytogenetics in 5 studies. AML patients with IDH1 mutations had inferior overall survival compared to patients without the mutations (hazard ratio 1.17, 95% CI: 1.02-1.36). Additionally, in CN-AML patients, IDH1 mutations were associated with a lower complete remission rate (risk ratio 1.30, 95% CI: 1.04-1.63). Although the available literature is limited to observational studies, these results may justify the risk-adapted therapeutic strategies for AML according to the IDH1 status.


Acute myeloid leukemia; IDH1; meta-analysis; mutation; prognosis


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