Analiza cytogenetyczna zespołów mielodysplastycznych

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Analiza cytogenetyczna zespołów mielodysplastycznych

Journal Title: Pomeranian Journal of Life Sciences - Year 2018, Vol 64, Issue 3

Abstract

Introduction: Myelodysplastic syndromes (MDS), classified by World Health Organization as myelodysplastic neoplasms, are a heterogeneous group of clonal disorders of haematopoietic stem cells, characterized by ineffective haematopoiesis, peripheral blood cytopaenias, and the propensity to evolve into acute myeloid leukaemia. The aim of the study was to estimate, using classical and molecular cytogenetic methods, the chromosome aberrations of adult patients with myelodysplastic syndrome. Materials and methods: The results of patients’ bone marrow tests were analysed. For each patient, a non-stimulated, a 24-hour bone marrow culture was analysed using classical cytogenetic techniques and fluorescent in situ hybridization (FISH). Each stage of the study covered the analysis of the results of karyotype examinations as well as selected aberrations of the Y chromosome and the 3rd, 5th, 7th, 8th and 20th pair of chromosomes. The research was conducted with FISH. The effectiveness of classical and molecular methods in myelodysplastic syndrome cytogenetic diagnostics was compared, and astatistical analysis which examined the correlation of the cytogenetic results with patients’ clinical data was conducted. The cytogenetic test was done for all 38 patients, and the statistical analysis was done for the 30 who had clinically confirmed MDS. Results: Chromosome abnormalities were detected in 14 (47%) patients. The most common cytogenetic abnormalities were: chromosome 5 deletion (13.3%), chromosome 8 trisomy (6.6%), and chromosome 20 deletion (6.6%). The results of the statistical analysis proved a significant statistical correlation between patients’ sex and the age at the onset of MDS (p = 0.035), and a correlation close to the limit of statistical significance between the age of patients with correct karyotype and patients with characteristic aberration karyotype suffered from MDS (p = 0.07). Conclusions: The above results prove that it is justified to conduct karyotype tests for every patient with suspected MDS. The simultaneous application of both conventional cytogenetics and FISH methods allows the identification of chromosome aberrations invisible in the karyotype examination. The cytogenetic analysis together with other diagnostic criteria increases diagnostic accuracy and also allows a more precise determination of the risk groups and the choice of proper treatment methods for patients with MDS.

Authors and Affiliations

Magdalena Gibka

Keywords

zespoły mielodysplastyczne; cytogenetyka klasyczna; fluorescencyjna hybrydyzacja in situ

EP ID EP594826
DOI 10.21164/pomjlifesci.438
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