Cytogenetic analyses in a group of patients with myelodysplastic syndromes

• Autor(es): Ambrósio, Ana ; Geraldes, Maria ; Ventura, Catarina ; Furtado, José ; Correia, Hildeberto
• Data: 2011
• Identificador Persistente: http://hdl.handle.net/10400.18/162
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Myelodysplastic syndromes; Cytogenetic data review; Doenças Genéticas
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

Myelodysplastic syndromes (MDS) constitute a heterogeneous group of clonal disorders of haematopoietic stem cell diseases characterised by dysplasia and ineffective haematopoiesis in one or more of the major myeloid cell lines. This disease occurs predominantly in older adults where the median age at diagnosis is approximately 70 years. The aim of this study was to evaluate the data from cytogenetic analyses in 425 patients with myelodysplastic syndromes. This population was constituted by 212 females and 213 males; the median age at diagnosis is 66 years. Numerical and structural chromosomal abnormalities were documented for each patient and subdivided according to the number of additional abnormalities. From the 425 cytogenetic analyses, 97 (22.8%) were abnormal. The results for the abnormal population were as follows: 73.2% had only one anomaly, 9.3%had two anomalies, and 17.5%had a complex karyotype. In the abnormal population, the most frequent isolated anomaly observed was the trisomy 8 (17.5%), followed by the deletion of chromosome 5 (13.4%), the loss of chromosome Y (11.3%) and the deletion of chromosome 20 (8.2%). When associating these anomalies with complex karyotypes, the most frequent anomaly observed was the deletion of chromosome 5 (24.7%). Overall, these results are different fromthose in the literature; however, the deletion of chromosome 5 is still the most recurrent anomaly in this syndrome.We can also conclude that the loss of chromosomeYis not always associated with age, but is one of the anomalies that characterize this group of pathologies. All these anomalies were found by cytogenetic analysis, a low-cost technique that allows clinicians to use this important prognostic tool to evaluate and make a more accurate clinical decision for patients with MDS.