Browsing by Author "Geraldes, Maria"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- Cytogenetic analyses in a group of patients with myelodysplastic syndromesPublication . Ambrósio, Ana; Geraldes, Maria; Ventura, Catarina; Furtado, José; Correia, HildebertoMyelodysplastic 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.
- Loss of the Y chromosome in male patients with haematological disordersPublication . Geraldes, Maria; Ambrósio, Ana; Almeida, Rita; Furtado, José; Correia, HildebertoThe clinical association between loss of the Y (L0Y) chromosome and haematological disorders has been continuously debated because both phenomena can be age-related. In order to understand the relationship between the L0Y chromosome and the different haematological diseases, we retrospectively analysed cytogenetic results of 1,241 male patients from 1995 to 2010. Seventyeight patients (6.3%) showed L0Y. Of the 78 patients without Y chromosome, 15 (19.2%) had B cell lymphomas (B lymphomas), 12 (15.4%) had myelodysplastic syndromes (MDS), 10 (12.8%) had chronic myelogeneous leukaemia (CML), 10 (12.8%) had acute myeloid leukaemia (AML), 8 (10.3%) had myeloproliferative neoplasms (MN), 6 (7.7%) had chronic lymphocytic leukaemia (CLL), 5 (6.4%) had multiple myeloma (MM), 5 (6.4%) had other mature B cell neoplasms (BN), 3 (3.8%) had MDS/MN, 3 (3.8%) had other mature T cell neoplasms (TN), and 1 (1.3%) had acute lymphoblastic leukaemia (ALL). We did not observe the L0Y chromosome in the 15 patients (1.2% of all patients studied) with Hodgkin’s disease. These percentages can be different if we consider only the pathology in which the L0Y was found: 4.1% of all patients with MN, 5.7% of all patients with MDS, 9.3% in the patients with AML, 12.5% in patients with ALL, 5.8% in patients with CLL, 5.8% in B lymphoma patients, 8.2% in the CML patients, 4.5% in MM patients, 9.1% in BN patients, 9.1% in MDS/MN patients and 15.8% in TN patients. Twenty-five patients (32.1%) had the L0Y associated with other cytogenetic anomalies. There are few reports of L0Y associated with haematological disorders since this has been considered mainly an age-related event. Therefore, the tendency of L0Y diseases to be associated that seems apparent in our data indicates that careful consideration should be taken when evaluating male patients with L0Y.