Cytogenetic Findings in Patients with Acquired Aplastic Anemia / 대한임상병리학회지

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.