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A novel quantitative assessment of minimal residual disease in patients with acute myeloid leukemia carrying NPM1 (nucleophosmin) exon 12 mutations

Leukemia volume 23, pages 793–796 (2009)Cite this article

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Acute myeloid leukemia (AML) is a clinically and cytogenetically heterogeneous disease in which distinct karyotype abnormalities define the different prognostic subgroups. However, almost half of AML cases show a normal karyotype.

Mutations within the NPM1 gene occur in about 60% of adult AML with normal karyotype and represent the single most frequent molecular aberration in this subgroup of patients.1 These mutations usually occur at exon 12, coding for the COOH-terminal region, and induce most frequently a net insertion of four base pairs. Currently, more than 40 different mutations can be identified.2 The most common subtype of mutation, type A, consisting of the duplication of the four bases TCTG, represents about 80% of adult AML cases, and another 12–15% show mutation B due to the insertion of CATG tetra nucleotide. NPM1 mutations appear to be stable and are detectable in the majority of patients at relapse.3, 4 Therefore, NPM1 mutant allele represents a useful marker for the quantification of minimal residual disease (MRD) in AML patients. It has been suggested that quantitative analysis of MRD has a strong prognostic value in AML patients and long-term follow-up of the residual leukemia cells by PCR techniques showed that positive MRD status is associated with an increased risk of relapse.5

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Acknowledgements

This study was partially supported by Research Grant no. MSM0021622430.

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Authors and Affiliations

  1. Department of Internal Medicine, Hemato-Oncology, Center of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Brno, Czech Republic

    D Dvorakova, M Lengerova & J Pospisilova

  2. Department of Internal Medicine, Hemato-Oncology, University Hospital Brno and Masaryk University, Brno, Czech Republic

    I Palasek & J Mayer

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  1. D Dvorakova
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  2. M Lengerova
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  3. J Pospisilova
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Correspondence to D Dvorakova.

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Dvorakova, D., Lengerova, M., Pospisilova, J. et al. A novel quantitative assessment of minimal residual disease in patients with acute myeloid leukemia carrying NPM1 (nucleophosmin) exon 12 mutations. Leukemia 23, 793–796 (2009). https://doi.org/10.1038/leu.2008.268

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