후천성 재생불량성빈혈의 세포유전학적 소견

Abstract

Background: Cytogenetic abnormalities have been described in a few patients with otherwise typical aplastic anemia. The possible clonal nature of this disease is a controversial 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 a persistent chromosomal abnormality after immunosuppressive therapy and evolved into the myelodysplastic syndrome after 53 months.

Conclusion: The frequency of the chromosomal abnormalities in acquired aplastic anemia at diagnosis seems to be higher than those in previous studies on the Caucasian population. A proportion of acquired aplastic anemia may be associated with the lineage-commitment progenitor cell defect and has the potential for a myeloid-specific leukemical evolution.