Cytogenetic Findings in Patients with Acquired Aplastic Anemia

Lee, Kyung A; Kim, Sun Hee

Abstract

BACKGROUND
Cytogenetic abnormalities have been described in a few patients with otherwise typical aplastic anemia, and the possible clonal nature of this disease is a controvertial issue.
METHODS
We analyzed bone marrow samples from 57 acquired aplastic anemia patients. Cytogenetic studies were performed using the standard G-banding with trypsin-Giemsa staining. For 18 patients who showed neither analyzable mitotic cells nor more than 5 metaphases in the conventional chromosome analysis, the interphase FISH analysis was performed using CEP 8 and 7 for the detection of trisomy 8 and monosomy 7, which are the most commonly reported chromosomal abnormalities in patients with aplastic anemia.
RESULTS
Of the 57 aplastic anemia patients, 10 patients (17.5%) had chromosomal abnormalities at the time of diagnosis. The chromosomal abnormalities were as follows: 3 cases of trisomy 8, and one case each of trisomy 8 and 9, t(8;21), inv(16), t(4;14), t(X;19), del(10), and monosomy 10. One patient with trisomy 8 showed persistent chromosomal abnormality after immunosuppressive therapy and evolved to myelodysplastic syndrome after 53 months.
CONCLUSIONS
The frequency of the chromosomal abnormalities in acquired aplastic anemia at diagnosis seems to be higher than those of previous studies in Caucasian population. A proportion of acquired aplastic anemia may be associated with lineage-commitment progenitor cell defect and has potential for a myeloid specific leukemic evolution.