40例骨髓增生异常综合征染色体核型及凋亡

Karyotype and apoptosis of 40 cases with myelodysplastic syndrome

目的探讨不同类型骨髓增生异常综合征(MDS)患者骨髓染色体核型和凋亡现象及其机制。方法采用骨髓短期培养和G显带技术对40例MDS患者进行染色体核型分析,钙磷脂结合蛋白(Annexin-Ⅴ)-FITC标记药物骨髓单个核细胞,了解其早期凋亡的情况,逆转录-PCR分析自杀相关因子(Fas)和凋亡抑制蛋白(survivin,生存素)mRNA表达变化。结果 20/40例MDS患者检出染色体异常,其中难治性贫血(RA)7/20例(35%),RA伴有环状铁幼粒细胞(RARS)1/2例(50%),RA伴多系发育异常(RCMD)5/8例(62.5%),RA伴原始细胞增多(RAEB)7/10例(70%);国际预后评分系统(IPSS)1年白血病转化率为低危组5%(1/20),中危1、2组25%(3/12),高危组75%(6/8),各组间差异有统计学意义(P<0.05);骨髓单个核细胞凋亡MDS患者高于10例正常体检者(对照组),从低危组到高危组凋亡减少,生存素基因mRNA表达增加,FasmRNA表达下降。结论染色体核型分析在MDS的预后评估中有重要价值;MDS从低危组到高危组凋亡减少,可能与生存素、Fas基因表达有关。

Objective To explore the karyotype and apoptosis of 40 cases with myelodysplastic syndrome（MDS）.Methods Chromosome analysis was performed in 40 cases of MDS using the short-term culture of bone marrow cell and G-banding technique. Apoptosis was observed by Annexin Ⅴ-FITC.The mRNA expressions of factor associated suicide（Fas） and survivin were detected by reverse transcription-PCR.Results Karyotype analysis showed that 20 cases（50%） had clonal karyotypic abnormalities.The rate of abnormal karyotype in refactory anemia（RA） was 35%（7/20）,while 50%（1/2） in refractory anemia with ring sideroblasts（RARS）,62.5%（5/8） in refractory cytopenia with multilineage dysplasia（RCMD） and 70%（7/10） in refractory anemia with excess blasts （RAEB）.The rate of transformation to leukemia in high risk patients was 75%（6/18） in 1 year.One case（1/20） in low risk had transformed into leukemia,and 3（3/12） in groups of middle risk 1 and middle risk 2.Apoptosis of MDS patients was severer than that of control group.In MDS patients going from low-risk to high-risk,the apoptosis decreased and mRNA expression of survivin increased,but Fas decreased.Conclusion Karyotype is of importance in evaluating the prognosis of MDS.In MDS patients going from low-risk to high-risk,the apoptosis is decreased,which may be related to Fas and survivin expression.