Cytogenetic Findings in Patients with Acquired Aplastic Anemia.
- Author:
Kyung A LEE
1
;
Sun Hee KIM
Author Information
1. Department of Clinical Pathology, Samsung Medical Center, Sungkyunkwan university, School of Medicine, Seoul, Korea. sunnyhk@smc.samsung.co.kr
- Publication Type:Original Article
- Keywords:
Aplastic anemia;
chromosomal abnormalities;
trisomy 8;
t(8;
21);
inv(16)
- MeSH:
Anemia, Aplastic*;
Bone Marrow;
Chromosome Aberrations;
Cytogenetics*;
Diagnosis;
Humans;
Interphase;
Metaphase;
Monosomy;
Myelodysplastic Syndromes;
Stem Cells;
Trisomy
- From:Korean Journal of Clinical Pathology
2001;21(4):240-245
- CountryRepublic of Korea
- Language:Korean
-
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.