RESUMO
We carried out the cytogenetic investigation of bone marrow aspirate from 32 patients with different types of MDS. The patients were from 8 regions of Ukraine. 11 patients had abnormal karyotype, and the transformation to AML were observed in 5 of them (45.5%). 27% of all patients had chromosomal changes with 3 or more chromosomes involved. The highest percentage of the patients with chromosomal anomalies (66.7%) was in cases of RAEB. Chromosome deletions were the most frequently detected karyotype abnormalities. We consider the phenomenon of chromosome fragmentation as the cytogenetic approval of the increased level of apoptosis in patients with MDS. The risk of the transformation to AML was measured using new international score system IPSS.
Assuntos
Aberrações Cromossômicas , Síndromes Mielodisplásicas/genética , Adulto , Idoso , Anemia Refratária/sangue , Anemia Refratária/genética , Anemia Refratária/mortalidade , Anemia Refratária/patologia , Apoptose/genética , Células da Medula Óssea/patologia , Análise Citogenética , Fragmentação do DNA , Feminino , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/sangue , Síndromes Mielodisplásicas/mortalidade , Síndromes Mielodisplásicas/patologia , Valor Preditivo dos Testes , UcrâniaRESUMO
We studied the prognostic significance of combination of different chromosomal abnormalities and genomic mutations in Ph+ chronic myeloid leukemia patients. In general 49 cytogenetic analyses of bone marrow aspirate from 35 patients (11 of these observed in dynamics) have been carried out. The additional chromosome changes were found in 25.07% cases and approximately 80% of anomalies appeared in the blast phase. Among the secondary chromosomal abnormalities extra Ph-chromosome appeared mostly in different combinations with trisomy of chromosomes 8 and 19. Appearance of clonal differences of cells, high rate of genome mutations and of microchromosomes had negative prognostic significance on disease proceeding.