LUO Liqing, CAO Yuezhen, PENG Zhenyi
Objective To assess the frequencies and clinical characteristics and prognostic significance of the isocitrate dehydrogenase 1(IDH1)mutations in acute myeloid leukemia (AML).Methods Two hundred and twenty patients with AML newly diagnosed in our hospital from January 2015 to September 2018 were selected. PCR was used to amplify the exon 4 of IDH1 gene, gene sequencing was used to detect the mutation of IDHL gene, and the clinical characteristics and prognostic significance of patients with IDH1 mutation were analyzed.Results IDH1 gene mutation was detected in 9 of 220 AML patients, and the mutation rate was 4.09%, all of which were R132H mutation. The median age was 50 years in the mutation group and 43 years old in the non-mutation group, and there was a difference between the two groups, P＜0.05. Blood platelets median level was 68×109/L in the mutated group and 43×109/L in the non-mutation group, and there was a difference between the two groups, P＜0.05. IDH1 gene mutations all occurred in AML-M4/M5, and they were not observed in other AML subtypes. The rate of IDH1mutations was 6.48% in AML with normal karyotype, higher than 1.43%in AML with abnormal karyotype, without signifi cant differences. IDH1 gene mutations were associated with NPM1mutations, P＜0.05, but not associated with FLT3-ITD muta -tions. Patients with IDH1 mutations were prone to CD34-、CD33+、CD64+ (averge P<0.05). IDH1 mutated patients hada lower complete remission rate than unmutated patients (50% vs 80.92%), P＜0.05. In all follow-up patients, the 2-year over all survival rate in IDH1 mutation group was lower than in the non-mutation group (25% vs 67.32%), P＜0.05. In the patients with normal karyotype, the 2 years overall survival rate in the IDH1 mutation group was lower than in the non-mutation group (28.57% vs 65.91%), P＜0.05. In the patients without mutated NPM1, the same result was obtain (0% vs 67.20%), P＜0.05. In the patients with mutated NPM1, the 2 years overall survival rate was 40% in the IDH1 mutation group and 67.86% in the non-mutation group, without statistical differences.Conclusion IDH1 gene mutations are more common in AML patients with older age, higher platelets level. IDH1 gene mutations are associated with normal karyotype, AML-M5/M4 and NPMl gene mutations. IDH1 gene mutation was correlated with NPM1 gene mutation. IDH1 gene mutation has an adverse effect on the prognosis of AML patients and is a molecular marker of poor prognosis. In the patients with mutated NPM1, IDH1 gene mutations have no effect on prognosis.
