Cytogenetic analogy between myelodysplastic syndrome and acute myeloid leukemia of elderly patients

Abstract
The biological and clinical importance of cytogenetic analysis in myelodysplastic syndrome (MDS) and in acute myeloid leukemia (AML) is being increasingly recognized. Recently, cytogenetic similarities were noted between elderly de novo AML and secondary AML, suggesting common etiopathogenetic mechanisms. In the present study we analyzed the cytogenetic similarities between patients with AML of different age and patients with MDS consecutively diagnosed during a 5-year period at a single, primary referral, hematologic center. Of 246 patients aged vs 8; P = 0.03). ‘Early MDS’ had significantly less complex karyotypes (21%; P < 0.05), but its cytogenetic features resembled otherwise those of ‘late mds’ and ‘old aml’, and any significant difference disappeared when patients with chronic myelomonocytic leukemia (cmml) were excluded. cmml markedly differed from other mds subtypes in the frequency of normal (57%) and of complex karyotypes (6%). secondary mds/aml and aml with trilineage dysplasia shared the same cytogenetic features of ‘late mds’ and ‘old aml’. ‘young aml’ strikingly differed from all other groups, particularly in the higher frequency of balanced translocations (29%; P < 0.001) and single karyotype abnormalities (32%; P < 0.02), and in the lower frequency of complex karyotypes (19%; P < 0.01) and of chromosome 5 (2%; P < 0.001) and 7 (9%; P < 0.01) involvement. we conclude that in a population-based series of patients, the cytogenetic profile of mds, particularly of raeb/raeb-t, was nearly identical to that of elderly patients with aml both in the frequency and in the type of chromosomal abnormalities. these results support the possibility that mds and aml of elderly patients may represent the same disease seen at different stages of evolution.