Objective: To investigate the long- term outcome of cyclosporin A (CsA) combined with thalidomide regime for Chinese patients with IPSS low/intermediate- 1 myelodysplastic syndromes (MDS) without del（5q）and the predictive variables which could impact the response to the therapy.
Methods: Seventy-six MDS patients who were treated with these drugs at a single institute in China were retrospectively analyzed. The polymorphism of cereblon gene, rs1672753, was detected in patients of this cohort by PCR and direct sequencing.
Results: A total of 53% of patients showed hematological improvement（HI）to the therapy. Thirty-one patients（31/73, 43%）achieved erythrocyte response（HI-E）; 15 patients（15/50, 30%）achieved neutrophil response（HI-N); 18 patients（18/58, 31%）achieved platelet response（HI-P). Twenty-seven of the 50 patients（46%）who were dependent on red blood cell transfusion achieved HI- E and became independent of transfusion. The median duration of response among the responders was 22 months (range, 1- 131 + months). Bone marrow blasts ≤2% was the only factor associated with longer response duration in univariate analysis （P=0.010）. There was no significant difference between the two groups of celeblon gene rs1672753 polymorphism either on the response rate or the response duration. The median survival of 67 patients without stem cell transplantation was 82 months. In multivariate analyses, factors significantly correlated with survival were IPSS-R（HR=3.461, 95%CI 1.126-10.639, P=0.030), age ≥ 60 y（HR=4.120, 95%CI 1.070-15.867, P=0.040）and HI-N（HR=7.733, 95%CI 1.007-59.396, P=0.049).
Conclusion: CsA combined with thalidomide regime could improve the anemia symptom in low/int-1 risk MDS patients without del（5q）. The predictive value of cereblon gene polymorphism, rs1672753, could not be verified in this study.
目的: 评价环孢素（CsA）联合沙利度胺治疗国际预后积分系统（IPSS）低危／中危-1骨髓增生异常综合征（MDS）患者的远期疗效及预后影响因素。
方法: 回顾性分析CsA联合沙利度胺治疗的76例IPSS低危／中危-1 MDS患者临床资料。采用PCR联合直接测序法检测患者cereblon基因rs1672753位点基因型。
结果: 76例患者中，男48例，女28例，中位年龄41(18~70）岁。CsA联合沙利度胺治疗后，40例（53%）获得血液学改善（HI），其中红系反应（HI-E）率为43%（73例中31例），中性粒细胞反应（HI-N）率为30%（50例中15例），血小板反应（HI-P）率为31%（58例中18例）。59例红细胞输注依赖患者中27例（46%）获得HI-E并脱离输血。HI中位维持时间为22(1~131+）个月。单因素分析显示骨髓原始细胞≤2％的患者疗效持续时间更长（P=0.010）。cereblon基因rs1672753位点基因型与HI率及治疗反应的维持时间均无明显相关性（P值均>0.05）。67例未行造血干细胞移植患者中位生存时间为82（95% CI 38~126）个月。多因素分析显示IPSS-R分组（HR=3.461，95% CI 1.126~10.639，P= 0.030）、年龄≥60岁（HR=4.120，95% CI 1.070~15.867，P=0.040）以及HI-N（HR=7.733，95% CI 1.007~59.396，P=0.049）为影响患者生存时间的独立预后因素。
结论: CsA联合沙利度胺治疗能长期改善IPSS低危／中危-1 MDS患者贫血症状，不良反应轻。在此组患者中未能验证cereblon基因rs1672753位点基因型对疗效的预测价值。