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Background  The isocitrate dehydrogenase ( IDH1/IDH2 ) genes are metabolic enzymes, which are frequently mutated in acute myeloid leukemia (AML). The enzymes acquire neomorphic enzymatic activity when they mutated.    Methods  We have investigated the frequency and outcome of the acquired  IDH1/IDH2  mutations and the  IDH1  SNP 105C > T ( rs11554137 ) in 189 unselected  de novo  AML patients by polymerase chain reaction amplification followed by direct sequencing. The survival are presented in Kaplan Meier curves with log rank test. Multivariable survival analysis was conducted using Cox regression method, taking age, risk group, treatment,  IDH1/2  mutations and  IDH1  SNP105 genotype into account.    Results  Overall,  IDH1/2  mutations were found in 41/187 (21.7%) of the AML patients.  IDH1  codon 132 mutations were present in 7.9%, whereas  IDH2  mutations were more frequent and mutations were identified in codon 140 and 172 in a frequency of 11.1% and 2.6%, respectively. The SNP 105C > T was present in 10.5% of the patients, similar to the normal population. A significantly reduced overall survival (OS) for patients carrying  IDH2  codon 140 mutation compared with patients carrying wild-type  IDH2  gene (p < 0.001) was observed in the intermediate risk patient group. Neither in the entire patient group nor subdivided in different risk groups,  IDH1  mutations had any significance on OS compared to the wild-type  IDH1  patients. A significant difference in OS between the heterozygous SNP variant and the homozygous wild-type was observed in the intermediate risk  FLT3  negative AML patients (p = 0.004).    Conclusions  Our results indicate that AML-patients with  IDH2  mutations or the  IDH1  SNP 105C > T variant can represent a new subgroup for risk stratification and may indicate new treatment options.

Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia