Kearns William G, Sutton Joanne F, Maciejewski Jaroslaw P, Young Neal S, Liu Johnson M
Hematology Branch, National Heart, Lung, & Blood Institute/NIH, Building 10, Room 7C103, Bethesda, MD, USA.
Am J Hematol. 2004 Jul;76(3):220-4. doi: 10.1002/ajh.20101.
Aneuploidy is frequently seen in leukemia and myelodysplasia (MDS) but was thought to be uncommon in aplastic anemia (AA). We examined marrow cells from 96 unselected patients with bone marrow failure syndromes to assess the frequency of undetected aneuploidy for chromosomes 7 and 8 by fluorescence in situ hybridization (FISH) as compared to routine cytogenetic analysis. Twenty-eight percent (27/96) of patients had an abnormal karyotype. FISH identified an additional 27 patients with undetected monosomy 7 or trisomy 8. Those patients with undetected monosomy 7 generally had a poor clinical outcome, suffering from lack of response to medical therapy or early death. In one AA/MDS patient with normal cytogenetics, FISH identified a large population of monosomy 7 cells, which clearly heralded a clinical relapse. In another patient, FISH studies were used to delineate instability of chromosome 8, with apparent disease progression from AA to MDS. We conclude that undetected aneuploidy exists in marrow cells of a significant percentage of patients with bone marrow failure syndromes.
非整倍体在白血病和骨髓增生异常综合征（MDS）中很常见，但过去认为在再生障碍性贫血（AA）中并不常见。我们检测了96例未经挑选的骨髓衰竭综合征患者的骨髓细胞，通过荧光原位杂交（FISH）评估7号和8号染色体未检测到的非整倍体频率，并与常规细胞遗传学分析进行比较。28%（27/96）的患者核型异常。FISH又发现了另外27例未检测到的7号染色体单体或8号染色体三体患者。那些未检测到7号染色体单体的患者通常临床预后较差，对药物治疗无反应或过早死亡。在一名细胞遗传学正常的AA/MDS患者中，FISH发现大量7号染色体单体细胞，这明显预示着临床复发。在另一名患者中，FISH研究用于描绘8号染色体的不稳定性，疾病明显从AA进展为MDS。我们得出结论，相当比例的骨髓衰竭综合征患者的骨髓细胞中存在未检测到的非整倍体。
