Appelbaum F R, Barrall J, Storb R, Ramberg R, Doney K, Sale G E, Thomas E D
Fred Hutchinson Cancer Research Center, Seattle, WA 98104.
Exp Hematol. 1987 Dec;15(11):1134-9.
Between June 1981 and August 1986, 183 patients with the referring diagnosis of aplastic anemia were evaluated with cytogenetic studies and marrow biopsies. Seven patients (4%) on biopsy were found to have myelodysplasia. Seven of the 176 patients (4%) with marrow biopsies that confirmed the pathologic diagnosis of severe aplastic anemia were found to have clonal cytogenetic abnormalities in unstimulated marrow samples. Among the 169 patients with typical aplastic anemia and no cytogenetic abnormalities, 5 (3%) subsequently developed either myelodysplasia or leukemia. Two of three patients with pathologically confirmed aplastic anemia and clonal cytogenetic abnormalities, who were not transplanted, developed myelodysplasia. These results demonstrate that approximately 4% of patients with aplastic anemia have clonal cytogenetic abnormalities of marrow cells, and that while all patients with aplastic anemia may have some risk of developing leukemia, those with a cytogenetic abnormality have an especially high risk.
1981年6月至1986年8月期间，对183例初步诊断为再生障碍性贫血的患者进行了细胞遗传学研究和骨髓活检。活检发现7例患者（4%）患有骨髓增生异常综合征。176例经骨髓活检确诊为重型再生障碍性贫血的患者中，有7例（4%）在未受刺激的骨髓样本中发现克隆性细胞遗传学异常。在169例典型再生障碍性贫血且无细胞遗传学异常的患者中，有5例（3%）随后发展为骨髓增生异常综合征或白血病。3例经病理证实为再生障碍性贫血且有克隆性细胞遗传学异常但未接受移植的患者中，有2例发展为骨髓增生异常综合征。这些结果表明，约4%的再生障碍性贫血患者存在骨髓细胞的克隆性细胞遗传学异常，并且虽然所有再生障碍性贫血患者都有发生白血病的风险，但有细胞遗传学异常的患者风险尤其高。
