Am J Blood Res 2012;2(4):254-264

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

Jian-Hua Feng, Xiao-Ping Guo, Yuan-Yuan Chen, Zhu-Jun Wang, Yu-Ping Cheng, Yong-Min Tang

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

Received July 5, 2012; Accepted October 22, 2012; Epub November 25, 2012; Published November 30, 2012

Abstract: 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. (AJBR1207001).

Keywords: Acute myeloid leukemia, IDH1, mutation, prognosis, meta-analysis


Address all correspondence to:
Dr. Yong-Min Tang
Division of Hematology-Oncology
Children’s Hospital, Zhejiang University School of Medicine
Hongzhou, Zhejiang Province, China.
Fax: 0571-87033296
E-mail: Y_M_Tang@zju.edu.cn
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