再生障碍性贫血转骨髓异常增生综合征患者1例诊疗过程分析及文献复习

Clinical analysis of a patient transformed from aplastic anemia to the myelodysplastic syndrome and literature review

目的探索再生障碍性贫血(AA)患者向骨髓增生异常综合征(MDS)转化的危险因素,并探讨诊疗过程。方法收集1例由AA转化的MDS患者临床资料,并通过相关文献加以分析总结。结果患者为45岁男性,6年前曾行血常规、骨髓细胞学及骨髓病理等检查明确诊断为AA。治疗上首先给予雄激素等促进造血但效果不佳,4个月后加用环孢素,治疗1年后患者就诊,此时血常规结果提示血红蛋白(Hb)及白细胞(WBC)较前已有所恢复,但由于血小板(PLT)一直无明显提升。为排除其他疾病可能,再次行骨髓细胞学检查但未发现异常。在随后的2年多随访时间里,虽然该患者定期检测环孢素浓度并规范调整治疗,但WBC和PLT始终未见好转,Hb甚至有下降趋势,而患者网织红细胞比例一直处于较高水平且逐渐升高。因此考虑患者的原发病可能已转化,故再次行骨髓细胞学检查,结果发现骨髓中三系均存在病态造血,最终患者诊断为MDS(AA继发)。结论对于长期口服免疫抑制剂治疗但效果不佳的AA患者,尤其是重度AA患者,应积极监测患者外周血及骨髓情况,若疾病转化则应尽早处理,有条件者也可考虑行造血干细胞移植治疗,避免其向其他克隆性疾病转化。同时,由于AA患者存在向MDS转化的风险,在做骨髓检查时可以通过MDS的流式细胞术(FCM)积分系统早期判断患者原发病是否已转化。

Objective To explore the risk factors of the transformation from aplastic anemia(AA) to the myelodysplastic syndrome(MDS),and discuss the diagnosis and treatment process. Methods Select one patient with MDS transformed from AA retrospectively,then analyse the clinical data through the relevant literature. Results A 45-year-old man who was diagnosed with A A by blood routine,bone marrow cytology, bone marrow pathology and other tests 6 years ago was selected. Then the patient received androgen therapy to promote the production of blood after diagnosis,but the curative effect was limited. Cyclosporine was added 4 months later,then the patient were transferred to our hospital after one year,with hemoglobin(Hb) and white blood cell(WBC) improved while platelet(PLT)unchanged. Considering this,the bone marrow cytology was done again to rule out other diseases,but it showed no abnormalities. In the subsequent two years, although the patient adjusted treatment under testing the concentration of cyclosporine regularly, WBC and PLT did not increased. It was interesting that Hb was decreased while the ratio of reticulocyte was at a high level and gradually increased.Therefore,we consider the patient's original disease may have been transformed,so the bone marrow cytology was performed again and the results showed the presence of pathological hematopoiesis in the three lines of the bone marrow, and the patient was eventually diagnosed with MDS(secondary from AA). Conclusion A A patients with long-term oral immunosuppressive treatment but no remission,especially severe AA patients, should actively monitoring peripheral blood and bone marrow, and it should be treated as early as possible if the disease transformated. To avoid its transformation to other clonal diseases,hemopoietic stem cell transplantation could be considered. Furthermore,due to the risk of AA patients transforming to MDS,we can early diagnose whether the primary disease has transformed through MDS flow cytometric(FCM) score system when do bone marrow examination.