Background. Cytogenetic abnormalities have been described in a few patients with otherwise typical severe aplastic anemia (SAA), and the possible clonal nature of this disease is a controversial issue. Materials and Methods. Sixty-nine patients with acquired severe aplastic anemia underwent cytogenetic examination on bone marrow cells at the time of diagnosis (n=34) and/or at least twice after immunosuppressive therapy (IS) (n=35). Results. We identified 2 major groups. Group A: 51 patients (74%) were normal and remained normal. Group B: 18 patients (26%) had at least one abnormal cytogenetic analysis. This second group could be further subdivided as follows: (B1) chromosomal abnormalities not present at first examination and acquired in the course of the disease (n=7); (B2) clonal cytogenetic abnormalities present at first examination and persisting (n=63); (B3) reversible cytogenetic abnormalities (n=8). The most frequent abnormality was trisomy 8 (n=8) followed by monosomy 7 (n=2); 82% of patients are alive in group A and 61% in group B. Three patients developed acute leukemia, all from group B. This represents 4% of all patients or 17% of those with at least one abnormal cytogenetic test. Conclusions. Thus the majority of SAA patients have normal karyotypes in marrow cells at presentation and at follow-up. Patients with abnormal karyotypes exist and can be further subdivided into those with reversible and those with persistent abnormalities. The letter are at risk of developing myelodysplasia or acute leukemia.
|Number of pages||5|
|Publication status||Published - 1996|
- Refractory anemia
- Severe aplastic anemia
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