摘要
目的:总结1例骨髓增生异常综合征-难治性中性粒细胞减少(MDS-RN)患者的诊疗体会。方法:对1例MDS-RN患者进行形态学、细胞化学、染色体核型分析,并用流式细胞术检测免疫表型,同时进行融合基因多重PCR扩增。结果:患者血常规示白细胞0.86×109/L,中性粒细胞绝对值0.25×109/L,红细胞3.86×1012/L,血红蛋白120g/L,血小板196×109/L,骨穿示粒系病态造血,巨核细胞系亦可见病态造血改变,前者比例超过10%,而后者比例未达10%;骨髓活检发现ALIP现象;染色体检查示:47,XX,+8[6]/46,XX[7],FISH:cen8三体为24%;中性粒细胞碱性磷酸酶测定为0,给予粒细胞集落刺激因子(G-CSF)后患者中性粒细胞轻度升高。结论:RN的细胞遗传学、预后因素及临床治疗方案还有待进一步资料来完善。我们观察的这1例患者对刺激造血和免疫抑制剂疗效都不佳,其临床行为还在观察中。
Objective：To summary the diagnosis and treatment of a case of myelodysplastic syndrome with refractory neutropenia（MDS-RN）.Method：The patient with MDS-RN was examined on morphology,cell chemistry and chromosome karyotype.The immunophenotype was detected by flow cytometry,and the fusion genes were amplified by multiple PCR.Result：Peripheral blood test showed WBC 0.86×109/L,NE 0.25×109/L,RBC 3.86×1012/L,Hb 120g/L,PLT 196×109/L.Bone marrow aspiration result demonstrated granulocytic and megakaryocyte dysplasia.The former proportion exceeded 10%,but the latter was less than 10%.Bone marrow biopsy data exhibited the phenomenon of ALIP.Chromosome test result showed： 47,XX,＋8[6]/46,XX[7].FISH result found that the proportion of cen8 trisomy was 24%.The result of neutrophil alkaline phosphatase detection was 0.Even after the treatment of granulocyte colony stimulating factor（G-CSF）,neutrophil count only increased slightly.Conclusion：More informations are still needed to clarify the cytogenetics,prognosis and clinical therapeutic regimen of RN.In this case, hematopoietic stimulating and immunosuppressive agents were not effective.The clinical behavior of this patient is still on observing.
出处
《临床血液学杂志》
CAS
2011年第2期139-141,共3页
Journal of Clinical Hematology
基金
国家科技支撑计划(No:2008BAI61B02)
江苏省青年科技创新人才基金(No:BK2004424)
江苏省高校自然科学研究项目(No:09KJB320015)
苏州市社会发展及医药项目(No:SS08024)
