Loss of the Y chromosome with a resulting 45, X0 karyotype is observed in normal bone marrow cells of elderly males but also in haematological malignancies. Whether Y loss in neoplastic cells is related to the process seen in normal ageing or is part of the carcinogenic process is unknown. The present study concerns the cytogenetic data from 1907 consecutive leukaemic or preleukaemic male patients with special regard to the presence or absence of the Y chromosome. Sixty-five patients (3.4%) had a 45, X-Y clone in their bone marrow (BM) cells. Loss of Y was rare below the age of 50 but increased in older patients, reaching 25% of the men over 80. Sixteen patients (0.08%) had more than 90% X0 cells in their BM. A correlation between Y loss and leukaemia could be established in seven cases, three of which were acute myeloid leukaemia M2 subtype where -Y is known to be a secondary event. In three other cases, -Y was part of a complex karyotype. Only one patient exhibited a 45, X0 karyotype, with no other rearrangement, that could be positively correlated with the neoplastic process.
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