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Title: Loss of the Y chromosome in male patients with haematological disorders
Author: Geraldes, Maria
Ambrósio, Ana
Almeida, Rita
Furtado, José
Correia, Hildeberto
Keywords: Haematological diseases
Loss of the Y chromosome
Doenças Genéticas
Issue Date: Jul-2011
Publisher: SpringerLink
Citation: Chromosome Res. 2011;19(Suppl 1):S167
Series/Report no.: 6.P63
Abstract: The 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.
Peer review: yes
ISSN: 0967-3849
Publisher Version:
Appears in Collections:DGH - Posters/abstracts em congressos internacionais

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