The characteristics and clinical outcome of 600 adult patients with aplastic anemia (AA) that had successful cytogenetic studies at the time of diagnosis were retrospectively evaluated. Among these, 572 (95.3%) had normal cytogenetics and 28 (4.7%) had abnormal cytogenetics. The most frequent abnormality was trisomy 8 (n = 15), followed by monosomy 7/deletion of 7q (n = 5), and deletion of 1q (n = 5). There were no statistically significant differences with respect to gender, hepatitis viral infection, paroxysmal nocturnal hemoglobinuria, or severity of disease between the patients in the normal and abnormal cytogenetics groups; however, the patients with abnormal cytogenetics were generally younger than those with normal cytogenetics (P < 0.001). Abnormal cytogenetics was associated with a higher cumulative leukemic transformation rate (P < 0.001) and lower leukemic transformation-free survival (P = 0.021). Furthermore, abnormal cytogenetics was an independent predictor of a poor response to immunosuppressive therapy (HR = 0.255; 95% CI = 0.077-0.839; P = 0.024). These analyses suggest that patients with AA and abnormal cytogenetics have different clinical characteristics compared to patients with AA and normal cytogenetics.
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