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Angelova Svetlana, Spassov Branimir, Nikolova Veselka, Christov Ivailo, Tzvetkov Nikolai, Simeonova Maria

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


TSitologiia i genetika

The aim of our study was 1) to define if the amplification of -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 with AML or MDS with the different chromosomal aberrations (CA) aged 16-81. The findings were distributed as follow: initiating balanced CA (n=60), aneuploidia (n=55), unbalanced CA (n=64). Amplification of -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 +21 as single CA in their karyotype; in 63.6% of 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 (<0,001).

Key words: amplification of -MYC, MLL and RUNX1 genes, karyotype, acute myeloid leukemia, myelodysplastic syndromes


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