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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
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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
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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
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Journal Article
Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype
2016
Overview
Mutations in the isocitrate dehydrogenase 1 and 2 (
and
) genes are frequent molecular lesions in acute myeloid leukaemia with normal karyotype (AML-NK). The effects of
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.
In our study samples from 110 adult
AML-NK were studied for the presence of
and
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.
mutations were found in 25 (23%) patients.
+ patients tend to have lower CR rate compared to
-patients (44%
62.2%, p = 0.152), and had slightly lower disease free survival (12 months
17 months; p = 0.091). On the other hand, the presence of
mutations had significant impact on overall survival (2
7 months; p = 0.039). The stability of
mutations were studied sequentially in 19
+ patients. All of them lost the mutation in CR, and the same
mutations were detected in relapsed samples.
Our study shows that the presence of
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,
mutations are very stable during the course of the disease and can be potentially used as markers for minimal residual disease detection.
Publisher
Sciendo,De Gruyter Brill Sp. z o.o., Paradigm Publishing Services,De Gruyter
Subject
