Correlation between peripheral cytopenias and cytogenetic changes in the bone marrow in a paediatric population. Experience of 22 years

Silva, Maria do Céu; Ambrósio, Ana Paula; Silva, Neuza; Viegas, Mónica; Correia, Hildeberto

http://hdl.handle.net/10400.18/6019

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Abstract(s)

The haemogram is the most frequent request and an essential tool in the diagnosis of different pathologies in paediatric age, especially in haematological diseases. Peripheral cytopenias is the first laboratory finding suggestive of haematological disease, such as myelodysplastic syndrome, idiopathic thrombocytopenic purpura, among others. Confirmation of these pathologies should include the study of bone marrow, with analysis by different methodologies, including conventional cytogenetic karyotype analysis. In this work, we intend to present and establish a correlation between the results obtained by conventional cytogenetics in bone marrow samples and observation of peripheral cytopenias in a paediatric population over 22 years. A retrospective 22-year series (1995-2017) of 154 bone marrow samples from a paediatric population was analysed, which at the initial diagnosis presented peripheral cytopenia. The samples were process according to the established protocol for chromosome analysis in bone marrow, including cell culture, for each biological product, followed by a cytogenetic study to identify the karyotype. In the 154 samples analysed with peripheral cytopenias, 31 were bicytopenias, 33 pancytopenias, 21 neutropenias, 11 anaemias and 58 thrombocytopenias, of which 22 were of idiopathic origin. We identify 15 samples with abnormal karyotype, some of which presented a complex karyotype. Samples with abnormal karyotypes had pancytopenia or bicytopenia at the same time. Peripheral cytopenias are extremely important for suspicion of paediatric haematological diseases, especially in myelodysplastic syndrome. Conventional cytogenetic analysis of the bone marrow plays a fundamental role in the confirmation of these pathologies, their clinical evolution and the choice of proper therapy, However, micro-arrays should be performed with the aim of identifying micro-deletions / duplications or loss of heterozygosity that are characteristic in this group of pathologies. The author’s don´t have conflict of interest.