Loss of the Y chromosome in male patients with haematological disorders

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.