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Is amplification of c-MYC, MLL and RUNX1 genes in AML and MDS patients with trisomy 8, 11 and 21 a factor for a clonal evolution in the karyotype?

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Abstract

The aim of our study was (1) to define if the amplification of c-MYC, MLL and RUNX1 genes is related to the progressive changes of the karyotype in patients with AML and MDS with trisomy 8, 11, and 21 (+8, +11, and +21) in bone marrow and (2) can that amplification be accepted as part of the clonal evolution (CE). Karyotype analysis was performed in 179 patients aged 16–81 with AML or MDS with different chromosomal aberrations (CA). The findings were distributed as follows: initiating balanced CA (n = 60), aneuploidia (n = 55), unbalanced CA (n = 64). Amplification of c-MYC, MLL and RUNX1 genes by means of fluorescence in situ hybridization (FISH) was found in 35% (7 out of 20) of AML and MDS patients with +8, +11, and +21 as a single CA in their karyotype; in 63.6% of the pts (7 out of 11)—with additional numerical or structural CA and in 75% (9 out of 12)—with complex karyotype. We assume that the amplification of the respective chromosomal regions in patients with +8, +11, and +21 is related to CE. Considering the amplification as a factor of CE, we established 3 patterns of karyotype development depending on the type of the initiating CA in it. Significant statistical differences were found between the three patterns regarding the karyotype distribution in the different stages of progression (p < 0.001).

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Authors and Affiliations

  1. National Specialized Hospital for Active Therapy of Hematological Diseases, Plovdivsko Pole str. 6, Sofia, 1756, Bulgaria

    S. Angelova, B. Spassov & V. Nikolova

  2. Medical University Hospital, Sv. Kliment Ohridski str. 1, Pleven, 5800, Bulgaria

    I. Christov, N. Tzvetkov & M. Simeonova

Authors
  1. S. Angelova
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  2. B. Spassov
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  3. V. Nikolova
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  4. I. Christov
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  5. N. Tzvetkov
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  6. M. Simeonova
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Correspondence to S. Angelova.

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Angelova, S., Spassov, B., Nikolova, V. et al. Is amplification of c-MYC, MLL and RUNX1 genes in AML and MDS patients with trisomy 8, 11 and 21 a factor for a clonal evolution in the karyotype?. Cytol. Genet. 49, 165–172 (2015). https://doi.org/10.3103/S0095452715030032

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  • DOI: https://doi.org/10.3103/S0095452715030032

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