Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype

Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes are frequent molecular lesions in acute myeloid leukaemia with normal karyotype (AML-NK). The effects of IDH mutations on clinical features and treatment outcome in AML-NK have been widely investigated, but only a few studies monitored these mutations during follow-up.

Patients and methods

In our study samples from 110 adult de novo AML-NK were studied for the presence of IDH1 and IDH2 mutations, their associations with other prognostic markers and disease outcome. We also analyzed the stability of these mutations during the course of the disease in complete remission (CR) and relapse.

Results

IDH mutations were found in 25 (23%) patients. IDH+ patients tend to have lower CR rate compared to IDH-patients (44% vs 62.2%, p = 0.152), and had slightly lower disease free survival (12 months vs 17 months; p = 0.091). On the other hand, the presence of IDH mutations had significant impact on overall survival (2 vs 7 months; p = 0.039). The stability of IDH mutations were studied sequentially in 19 IDH+ patients. All of them lost the mutation in CR, and the same IDH mutations were detected in relapsed samples.

Conclusions

Our study shows that the presence of IDH mutations confer an adverse effect in AML-NK patients, which in combination with other molecular markers can lead to an improved risk stratification and better treatment. Also, IDH mutations are very stable during the course of the disease and can be potentially used as markers for minimal residual disease detection.

Language:: English

Publication timeframe:: 4 times per year
Journal Subjects:: Medicine, Clinical Medicine, Internal Medicine, Haematology, Oncology, Radiology

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Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype

Marijana Virijevic

Teodora Karan-Djurasevic

Irena Marjanovic

Natasa Tosic

Mirjana Mitrovic

Irena Djunic

Natasa Colovic

Ana Vidovic

Nada Suvajdzic-Vukovic

Dragica Tomin

Sonja Pavlovic

Article Category: Research Article

Published Online: Sep 08, 2016

Page range: 385 - 393

Received: Mar 28, 2016

Accepted: Jun 18, 2016

DOI: https://doi.org/10.1515/raon-2016-0044

Keywordsmutations, mutations, acute myeloid leukaemia, normal karyotype

© 2016 Radiol Oncol

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Background

Patients and methods

Results

Conclusions

Keywords
mutations, mutations, acute myeloid leukaemia, normal karyotype