We analyzed complex chromosomal aberrations in 37 adult patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) using classical cytogenetic method, FISH with locus-specific probes, multicolor FISH (mFISH) and multicolor banding (mBAND). Unbalanced structural aberrations, leading to a gain or loss of chromosomal material, were frequently observed in bone marrow cells. In 30 patients (81.1%) loss or rearrangement of chromosome 5, 7 and/or 11 was found. The most frequent numerical change was trisomy 8 as expected (detected in six patients-16.2%) and the most frequent breakpoints 5q13, 5q33, 7q31, 10p12, 11q23, 12p13, 17p11 and 21q22 were determined.
- MeSH
- akutní erytroblastická leukemie genetika patologie MeSH
- buňky kostní dřeně fyziologie patologie MeSH
- chromozomální aberace MeSH
- dějiny 16. století MeSH
- dospělí MeSH
- financování organizované MeSH
- genová přestavba genetika MeSH
- hybridizace in situ fluorescenční MeSH
- karyotypizace MeSH
- lidé středního věku MeSH
- lidé MeSH
- lidské chromozomy genetika MeSH
- myelodysplastické syndromy genetika patologie MeSH
- senioři MeSH
- Check Tag
- dějiny 16. století MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- historické články MeSH
During progression of chronic myeloid leukemia (CML) from the chronic to the accelerated phase and/or blast crisis, clonal evolution with nonrandom secondary aberrations such as +8, +Ph, i(17q), +19, -Y, +21, +17, and -7 is frequently observed. Complex chromosomal rearrangements (CCR) are rather rare, and the significance and frequency of different anomalies are poorly understood. The aim of this study was to determine the chromosomes and chromosomal regions which are involved in CCR during progression of the disease and the frequency of nonrandom changes. Conventional cytogenetics, FISH, and multicolor FISH (mFISH) were used to study karyotypes of 18 CML patients with CCR ascertained by G-banding. Most often involved in CCR were chromosomes 2 (x6); 3, 7, and 17 (x5); 1 and 4 (x4); and 5, 6, 11, and 12 (x3); regions 1q, 2q, 5q, 7p, and 17p; and breakpoints 17p11.2 (x3) and 7p15 (x2). There were no recurrent complex translocations. The present findings demonstrate the very high instability of the genome of malignant cells at the chromosomal level. Precise determination of breakpoints involved in CCR can give new dimension to the understanding of genetic mechanisms which play role in progression of malignant disease.
- MeSH
- bcr-abl fúzní proteiny genetika MeSH
- chromozomální aberace MeSH
- chronická myeloidní leukemie genetika MeSH
- dospělí MeSH
- filadelfský chromozom MeSH
- financování organizované MeSH
- hybridizace in situ fluorescenční MeSH
- karyotypizace MeSH
- lidé MeSH
- lidské chromozomy, pár 2 genetika MeSH
- messenger RNA analýza MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- pruhování chromozomů MeSH
- translokace genetická MeSH
- zlomy chromozomů MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
