Type and location of isocitrate dehydrogenase mutations influence clinical characteristics and disease outcome of acute myeloid leukemia.

Abstract

Mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) are genetic alterations in acute myeloid leukemia (AML). The aim of our study was to investigate the frequency and prognostic effect of IDH1/2 mutations together followed by an individual analysis of each substitution in a Hungarian cohort consisting of 376 patients with AML. IDH1(mut) and IDH2(mut) were mutually exclusive, detected in 8.5% and 7.5% of cases, respectively. IDH1/2(mut) was associated with: older age (p = 0.001), higher average platelet count (p = 0.001), intermediate karyotype (p < 0.0001), NPM1(mut) (p = 0.022) and lower mRNA expression level of ABCG2 gene (p = 0.006). Overall survival (OS), remission and relapse rates were not different in IDH1(mut) or IDH2(mut) vs. IDH(neg). IDH1(mut) and IDH2(mut) were associated differently with NPM1(mut); co-occurrence was observed in 14.3% of IDH1 R132C vs. 70% of R132H carriers (p = 0.02) and in 47.4% of IDH2 R140Q vs. 0% of R172K carriers (p = 0.02). IDH1 R132H negatively influenced OS compared to IDH(neg) (p = 0.02) or R132C (p = 0.019). Particular amino acid changes affecting the same IDH1 codon influence the clinical characteristics and treatment outcome in AML.

DOI: 10.3109/10428194.2012.736981
020040060020132014201520162017
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@article{Koszarska2013TypeAL, title={Type and location of isocitrate dehydrogenase mutations influence clinical characteristics and disease outcome of acute myeloid leukemia.}, author={Magdalena Renata Koszarska and Andras Bors and Angela Feczko and N{\'o}ra Meggyesi and {\'A}rp{\'a}d B{\'a}tai and Judit Csomor and Emma {\'A}d{\'a}m and Andr{\'a}s Kozma and Tam{\'a}s I. Orb{\'a}n and N{\'o}ra Lovas and Andrea Sipos and {\'E}va Kar{\'a}szi and J{\'a}nos Dolgos and S{\'a}ndor Gy{\"{o}rgy Fekete and Judit Reichardt and Eniko Lehoczky and Tamas Masszi and Attila Tordai and Hajnalka Andrikovics}, journal={Leukemia & lymphoma}, year={2013}, volume={54 5}, pages={1028-35} }