Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA.
Hematology Am Soc Hematol Educ Program. 2011;2011:90-5. doi: 10.1182/asheducation-2011.1.90.
Current immunosuppressive treatment (IST) induces remissions in 50%-70% of patients with aplastic anemia (AA) and result in excellent long-term survival. In recent years, the survival of refractory patients has also improved. Apart from relapse and refractoriness to IST, evolution of clonal diseases, including paroxysmal nocturnal hemoglobinuria and myelodysplastic syndrome (MDS), are the most serious long-term complications and constitute a strong argument for definitive therapy with BM transplantation if possible. Consequently, the detection of diagnostic chromosomal abnormalities (mostly monosomy 7) is of great clinical importance. Newer whole-genome scanning technologies such as single nucleotide polymorphism (SNP) array-based karyotyping may be a helpful diagnostic test for the detection of chromosomal defects in AA due to its precision/resolution and lack of reliance on cell division.
目前的免疫抑制治疗（IST）可使 50%-70%的再生障碍性贫血（AA）患者缓解，并获得极好的长期生存。近年来，难治性患者的生存率也有所提高。除 IST 的复发和难治性外，克隆性疾病（包括阵发性睡眠性血红蛋白尿症和骨髓增生异常综合征[MDS]）的进展是最严重的长期并发症，如果可能，这构成了对 BM 移植进行确定性治疗的有力论据。因此，如果可能，对诊断性染色体异常（主要是单体 7）的检测具有重要的临床意义。新型全基因组扫描技术，如基于单核苷酸多态性（SNP）阵列的核型分析，由于其精确性/分辨率和不依赖细胞分裂，可能成为 AA 染色体缺陷检测的有用诊断测试。
